dbSNP Short Genetic Variations
Welcome to the Reference SNP (rs) Report
All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.
Reference SNP (rs) Report
This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.
rs1475995402
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr6:31640866 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
- Alleles
- C>A
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
A=0.000004 (1/243866, GnomAD_exome)A=0.0001 (1/8988, ALFA)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- BAG6 : Missense Variant
- Publications
- 0 citations
- Genomic View
- See rs on genome
ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.
Release Version: 20231103111315
| Population | Group | Sample Size | Ref Allele | Alt Allele | Ref HMOZ | Alt HMOZ | HTRZ | HWEP |
|---|---|---|---|---|---|---|---|---|
| Total | Global | 8988 | C=0.9999 | A=0.0001 | 0.999777 | 0.0 | 0.000223 | 0 |
| European | Sub | 6062 | C=0.9998 | A=0.0002 | 0.99967 | 0.0 | 0.00033 | 0 |
| African | Sub | 594 | C=1.000 | A=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| African Others | Sub | 8 | C=1.0 | A=0.0 | 1.0 | 0.0 | 0.0 | N/A |
| African American | Sub | 586 | C=1.000 | A=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| Asian | Sub | 56 | C=1.00 | A=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| East Asian | Sub | 26 | C=1.00 | A=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Other Asian | Sub | 30 | C=1.00 | A=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 1 | Sub | 0 | C=0 | A=0 | 0 | 0 | 0 | N/A |
| Latin American 2 | Sub | 0 | C=0 | A=0 | 0 | 0 | 0 | N/A |
| South Asian | Sub | 0 | C=0 | A=0 | 0 | 0 | 0 | N/A |
| Other | Sub | 2276 | C=1.0000 | A=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").
Download| Study | Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| gnomAD - Exomes | Global | Study-wide | 243866 | C=0.999996 | A=0.000004 |
| gnomAD - Exomes | European | Sub | 130252 | C=0.999992 | A=0.000008 |
| gnomAD - Exomes | Asian | Sub | 48512 | C=1.00000 | A=0.00000 |
| gnomAD - Exomes | American | Sub | 34386 | C=1.00000 | A=0.00000 |
| gnomAD - Exomes | African | Sub | 14840 | C=1.00000 | A=0.00000 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 9856 | C=1.0000 | A=0.0000 |
| gnomAD - Exomes | Other | Sub | 6020 | C=1.0000 | A=0.0000 |
| Allele Frequency Aggregator | Total | Global | 8988 | C=0.9999 | A=0.0001 |
| Allele Frequency Aggregator | European | Sub | 6062 | C=0.9998 | A=0.0002 |
| Allele Frequency Aggregator | Other | Sub | 2276 | C=1.0000 | A=0.0000 |
| Allele Frequency Aggregator | African | Sub | 594 | C=1.000 | A=0.000 |
| Allele Frequency Aggregator | Asian | Sub | 56 | C=1.00 | A=0.00 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 0 | C=0 | A=0 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 0 | C=0 | A=0 |
| Allele Frequency Aggregator | South Asian | Sub | 0 | C=0 | A=0 |
Help
Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.
Genomic Placements
| Sequence name | Change |
|---|---|
| GRCh38.p14 chr 6 | NC_000006.12:g.31640866C>A |
| GRCh37.p13 chr 6 | NC_000006.11:g.31608643C>A |
| GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1 | NT_113891.3:g.3118153C>A |
| GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 | NT_113891.2:g.3118259C>A |
| GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 | NT_167248.2:g.2896684C>A |
| GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 | NT_167248.1:g.2902280C>A |
| GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 | NT_167245.2:g.2888629C>A |
| GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 | NT_167245.1:g.2894214C>A |
| GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 | NT_167249.2:g.2940147C>A |
| GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 | NT_167249.1:g.2939445C>A |
| GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 | NT_167246.2:g.2945906C>A |
| GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 | NT_167246.1:g.2951526C>A |
| GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 | NT_167247.2:g.2982745C>A |
| GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 | NT_167247.1:g.2988330C>A |
Gene: BAG6, BAG cochaperone 6
(minus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| BAG6 transcript variant 4 | NM_001098534.2:c.2752G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform 2 | NP_001092004.1:p.Val918Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant 2 | NM_080702.3:c.2752G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform 2 | NP_542433.1:p.Val918Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant 3 | NM_080703.3:c.2752G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform 2 | NP_542434.1:p.Val918Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant 5 | NM_001199697.2:c.2374G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform 3 | NP_001186626.1:p.Val792Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant 6 | NM_001199698.2:c.2752G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform 4 | NP_001186627.1:p.Val918Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant 19 | NM_001387963.1:c.2695G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform 15 | NP_001374892.1:p.Val899Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant 15 | NM_001387955.1:c.2749G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform 19 | NP_001374884.1:p.Val917Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant 25 | NM_001387985.1:c.2887G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform 11 | NP_001374914.1:p.Val963Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant 60 | NM_001388020.1:c.2860G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform 5 | NP_001374949.1:p.Val954Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant 18 | NM_001387961.1:c.2752G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform 2 | NP_001374890.1:p.Val918Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant 29 | NM_001387989.1:c.2860G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform 5 | NP_001374918.1:p.Val954Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant 56 | NM_001388016.1:c.2857G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform 13 | NP_001374945.1:p.Val953Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant 12 | NM_001387949.1:c.2749G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform 26 | NP_001374878.1:p.Val917Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant 44 | NM_001388004.1:c.2698G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform 14 | NP_001374933.1:p.Val900Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant 53 | NM_001388013.1:c.2695G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform 24 | NP_001374942.1:p.Val899Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant 32 | NM_001387992.1:c.2806G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform 7 | NP_001374921.1:p.Val936Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant 26 | NM_001387986.1:c.2752G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform 2 | NP_001374915.1:p.Val918Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant 23 | NM_001387983.1:c.2857G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform 13 | NP_001374912.1:p.Val953Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant 10 | NM_001387944.1:c.2698G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform 21 | NP_001374873.1:p.Val900Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant 36 | NM_001387996.1:c.2860G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform 5 | NP_001374925.1:p.Val954Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant 48 | NM_001388008.1:c.2776G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform 9 | NP_001374937.1:p.Val926Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant 42 | NM_001388002.1:c.2671G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform 17 | NP_001374931.1:p.Val891Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant 57 | NM_001388017.1:c.2752G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform 2 | NP_001374946.1:p.Val918Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant 35 | NM_001387995.1:c.2857G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform 6 | NP_001374924.1:p.Val953Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant 49 | NM_001388009.1:c.2779G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform 8 | NP_001374938.1:p.Val927Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant 38 | NM_001387998.1:c.2749G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform 19 | NP_001374927.1:p.Val917Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant 40 | NM_001388000.1:c.2749G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform 26 | NP_001374929.1:p.Val917Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant 7 | NM_001387940.1:c.2752G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform 4 | NP_001374869.1:p.Val918Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant 21 | NM_001387965.1:c.2860G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform 12 | NP_001374894.1:p.Val954Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant 34 | NM_001387994.1:c.2860G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform 5 | NP_001374923.1:p.Val954Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant 55 | NM_001388015.1:c.2752G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform 2 | NP_001374944.1:p.Val918Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant 31 | NM_001387991.1:c.2806G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform 7 | NP_001374920.1:p.Val936Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant 54 | NM_001388014.1:c.2752G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform 4 | NP_001374943.1:p.Val918Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant 17 | NM_001387958.1:c.2806G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform 18 | NP_001374887.1:p.Val936Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant 59 | NM_001388019.1:c.2857G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform 6 | NP_001374948.1:p.Val953Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant 27 | NM_001387987.1:c.2749G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform 10 | NP_001374916.1:p.Val917Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant 30 | NM_001387990.1:c.2749G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform 10 | NP_001374919.1:p.Val917Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant 14 | NM_001387954.1:c.2860G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform 12 | NP_001374883.1:p.Val954Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant 22 | NM_001387982.1:c.2698G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform 14 | NP_001374911.1:p.Val900Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant 45 | NM_001388005.1:c.2857G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform 13 | NP_001374934.1:p.Val953Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant 28 | NM_001387988.1:c.2857G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform 6 | NP_001374917.1:p.Val953Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant 39 | NM_001387999.1:c.2752G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform 4 | NP_001374928.1:p.Val918Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant 47 | NM_001388007.1:c.2749G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform 10 | NP_001374936.1:p.Val917Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant 11 | NM_001387946.1:c.2860G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform 20 | NP_001374875.1:p.Val954Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant 50 | NM_001388010.1:c.2857G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform 6 | NP_001374939.1:p.Val953Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant 51 | NM_001388011.1:c.2860G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform 5 | NP_001374940.1:p.Val954Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant 20 | NM_001387964.1:c.2698G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform 14 | NP_001374893.1:p.Val900Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant 13 | NM_001387951.1:c.2752G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform 25 | NP_001374880.1:p.Val918Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant 16 | NM_001387956.1:c.2752G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform 4 | NP_001374885.1:p.Val918Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant 8 | NM_001387942.1:c.2695G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform 22 | NP_001374871.1:p.Val899Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant 58 | NM_001388018.1:c.2752G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform 2 | NP_001374947.1:p.Val918Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant 41 | NM_001388001.1:c.2752G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform 4 | NP_001374930.1:p.Val918Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant 46 | NM_001388006.1:c.2860G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform 12 | NP_001374935.1:p.Val954Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant 37 | NM_001387997.1:c.2698G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform 21 | NP_001374926.1:p.Val900Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant 43 | NM_001388003.1:c.2674G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform 16 | NP_001374932.1:p.Val892Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant 24 | NM_001387984.1:c.2860G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform 12 | NP_001374913.1:p.Val954Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant 52 | NM_001388012.1:c.2887G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform 23 | NP_001374941.1:p.Val963Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant 33 | NM_001387993.1:c.2857G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform 6 | NP_001374922.1:p.Val953Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant 9 | NM_001387943.1:c.2860G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform 20 | NP_001374872.1:p.Val954Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant X9 | XM_017011297.2:c.2803G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform X6 | XP_016866786.1:p.Val935Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant X12 | XM_017011296.2:c.2749G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform X7 | XP_016866785.1:p.Val917Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant X1 | XM_047419338.1:c.2806G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform X1 | XP_047275294.1:p.Val936Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant X2 | XM_047419339.1:c.2803G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform X2 | XP_047275295.1:p.Val935Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant X3 | XM_047419340.1:c.2803G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform X2 | XP_047275296.1:p.Val935Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant X4 | XM_047419341.1:c.2857G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform X3 | XP_047275297.1:p.Val953Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant X5 | XM_047419342.1:c.2695G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform X4 | XP_047275298.1:p.Val899Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant X6 | XM_047419343.1:c.2695G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform X4 | XP_047275299.1:p.Val899Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant X7 | XM_047419344.1:c.2806G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform X5 | XP_047275300.1:p.Val936Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant X8 | XM_047419345.1:c.2806G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform X5 | XP_047275301.1:p.Val936Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant X10 | XM_047419346.1:c.2803G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform X6 | XP_047275302.1:p.Val935Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant X11 | XM_047419347.1:c.2803G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform X6 | XP_047275303.1:p.Val935Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant X13 | XM_047419348.1:c.2698G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform X8 | XP_047275304.1:p.Val900Leu | V (Val) > L (Leu) | Missense Variant |
| BAG6 transcript variant X14 | XM_047419349.1:c.2695G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| large proline-rich protein BAG6 isoform X9 | XP_047275305.1:p.Val899Leu | V (Val) > L (Leu) | Missense Variant |
Help
Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.
Not Reported in ClinVar
Help
Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".
| Placement | C= | A |
|---|---|---|
| GRCh38.p14 chr 6 | NC_000006.12:g.31640866= | NC_000006.12:g.31640866C>A |
| GRCh37.p13 chr 6 | NC_000006.11:g.31608643= | NC_000006.11:g.31608643C>A |
| GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1 | NT_113891.3:g.3118153= | NT_113891.3:g.3118153C>A |
| GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 | NT_113891.2:g.3118259= | NT_113891.2:g.3118259C>A |
| GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 | NT_167248.2:g.2896684= | NT_167248.2:g.2896684C>A |
| GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 | NT_167248.1:g.2902280= | NT_167248.1:g.2902280C>A |
| GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 | NT_167245.2:g.2888629= | NT_167245.2:g.2888629C>A |
| GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 | NT_167245.1:g.2894214= | NT_167245.1:g.2894214C>A |
| GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 | NT_167249.2:g.2940147= | NT_167249.2:g.2940147C>A |
| GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 | NT_167249.1:g.2939445= | NT_167249.1:g.2939445C>A |
| GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 | NT_167246.2:g.2945906= | NT_167246.2:g.2945906C>A |
| GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 | NT_167246.1:g.2951526= | NT_167246.1:g.2951526C>A |
| GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 | NT_167247.2:g.2982745= | NT_167247.2:g.2982745C>A |
| GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 | NT_167247.1:g.2988330= | NT_167247.1:g.2988330C>A |
| BAG6 transcript variant 1 | NM_004639.3:c.2770= | NM_004639.3:c.2770G>T |
| BAG6 transcript variant 3 | NM_080703.3:c.2752= | NM_080703.3:c.2752G>T |
| BAG6 transcript variant 3 | NM_080703.2:c.2752= | NM_080703.2:c.2752G>T |
| BAG6 transcript variant 2 | NM_080702.3:c.2752= | NM_080702.3:c.2752G>T |
| BAG6 transcript variant 2 | NM_080702.2:c.2752= | NM_080702.2:c.2752G>T |
| BAG6 transcript variant 4 | NM_001098534.2:c.2752= | NM_001098534.2:c.2752G>T |
| BAG6 transcript variant 4 | NM_001098534.1:c.2752= | NM_001098534.1:c.2752G>T |
| BAG6 transcript variant X9 | XM_017011297.2:c.2803= | XM_017011297.2:c.2803G>T |
| BAG6 transcript variant X24 | XM_017011297.1:c.2803= | XM_017011297.1:c.2803G>T |
| BAG6 transcript variant 6 | NM_001199698.2:c.2752= | NM_001199698.2:c.2752G>T |
| BAG6 transcript variant 6 | NM_001199698.1:c.2752= | NM_001199698.1:c.2752G>T |
| BAG6 transcript variant X12 | XM_017011296.2:c.2749= | XM_017011296.2:c.2749G>T |
| BAG6 transcript variant X23 | XM_017011296.1:c.2749= | XM_017011296.1:c.2749G>T |
| BAG6 transcript variant 5 | NM_001199697.2:c.2374= | NM_001199697.2:c.2374G>T |
| BAG6 transcript variant 5 | NM_001199697.1:c.2374= | NM_001199697.1:c.2374G>T |
| BAG6 transcript variant 32 | NM_001387992.1:c.2806= | NM_001387992.1:c.2806G>T |
| BAG6 transcript variant 31 | NM_001387991.1:c.2806= | NM_001387991.1:c.2806G>T |
| BAG6 transcript variant 30 | NM_001387990.1:c.2749= | NM_001387990.1:c.2749G>T |
| BAG6 transcript variant 23 | NM_001387983.1:c.2857= | NM_001387983.1:c.2857G>T |
| BAG6 transcript variant 22 | NM_001387982.1:c.2698= | NM_001387982.1:c.2698G>T |
| BAG6 transcript variant X5 | XM_047419342.1:c.2695= | XM_047419342.1:c.2695G>T |
| BAG6 transcript variant 21 | NM_001387965.1:c.2860= | NM_001387965.1:c.2860G>T |
| BAG6 transcript variant X1 | XM_047419338.1:c.2806= | XM_047419338.1:c.2806G>T |
| BAG6 transcript variant X4 | XM_047419341.1:c.2857= | XM_047419341.1:c.2857G>T |
| BAG6 transcript variant 20 | NM_001387964.1:c.2698= | NM_001387964.1:c.2698G>T |
| BAG6 transcript variant 19 | NM_001387963.1:c.2695= | NM_001387963.1:c.2695G>T |
| BAG6 transcript variant 49 | NM_001388009.1:c.2779= | NM_001388009.1:c.2779G>T |
| BAG6 transcript variant X7 | XM_047419344.1:c.2806= | XM_047419344.1:c.2806G>T |
| BAG6 transcript variant 48 | NM_001388008.1:c.2776= | NM_001388008.1:c.2776G>T |
| BAG6 transcript variant X10 | XM_047419346.1:c.2803= | XM_047419346.1:c.2803G>T |
| BAG6 transcript variant 18 | NM_001387961.1:c.2752= | NM_001387961.1:c.2752G>T |
| BAG6 transcript variant 17 | NM_001387958.1:c.2806= | NM_001387958.1:c.2806G>T |
| BAG6 transcript variant 15 | NM_001387955.1:c.2749= | NM_001387955.1:c.2749G>T |
| BAG6 transcript variant 14 | NM_001387954.1:c.2860= | NM_001387954.1:c.2860G>T |
| BAG6 transcript variant 44 | NM_001388004.1:c.2698= | NM_001388004.1:c.2698G>T |
| BAG6 transcript variant X6 | XM_047419343.1:c.2695= | XM_047419343.1:c.2695G>T |
| BAG6 transcript variant 11 | NM_001387946.1:c.2860= | NM_001387946.1:c.2860G>T |
| BAG6 transcript variant 43 | NM_001388003.1:c.2674= | NM_001388003.1:c.2674G>T |
| BAG6 transcript variant 42 | NM_001388002.1:c.2671= | NM_001388002.1:c.2671G>T |
| BAG6 transcript variant X14 | XM_047419349.1:c.2695= | XM_047419349.1:c.2695G>T |
| BAG6 transcript variant 8 | NM_001387942.1:c.2695= | NM_001387942.1:c.2695G>T |
| BAG6 transcript variant 41 | NM_001388001.1:c.2752= | NM_001388001.1:c.2752G>T |
| BAG6 transcript variant 7 | NM_001387940.1:c.2752= | NM_001387940.1:c.2752G>T |
| BAG6 transcript variant 54 | NM_001388014.1:c.2752= | NM_001388014.1:c.2752G>T |
| BAG6 transcript variant 37 | NM_001387997.1:c.2698= | NM_001387997.1:c.2698G>T |
| BAG6 transcript variant 60 | NM_001388020.1:c.2860= | NM_001388020.1:c.2860G>T |
| BAG6 transcript variant 59 | NM_001388019.1:c.2857= | NM_001388019.1:c.2857G>T |
| BAG6 transcript variant 35 | NM_001387995.1:c.2857= | NM_001387995.1:c.2857G>T |
| BAG6 transcript variant 33 | NM_001387993.1:c.2857= | NM_001387993.1:c.2857G>T |
| BAG6 transcript variant 58 | NM_001388018.1:c.2752= | NM_001388018.1:c.2752G>T |
| BAG6 transcript variant 52 | NM_001388012.1:c.2887= | NM_001388012.1:c.2887G>T |
| BAG6 transcript variant 57 | NM_001388017.1:c.2752= | NM_001388017.1:c.2752G>T |
| BAG6 transcript variant 56 | NM_001388016.1:c.2857= | NM_001388016.1:c.2857G>T |
| BAG6 transcript variant 29 | NM_001387989.1:c.2860= | NM_001387989.1:c.2860G>T |
| BAG6 transcript variant 51 | NM_001388011.1:c.2860= | NM_001388011.1:c.2860G>T |
| BAG6 transcript variant 50 | NM_001388010.1:c.2857= | NM_001388010.1:c.2857G>T |
| BAG6 transcript variant 26 | NM_001387986.1:c.2752= | NM_001387986.1:c.2752G>T |
| BAG6 transcript variant 16 | NM_001387956.1:c.2752= | NM_001387956.1:c.2752G>T |
| BAG6 transcript variant 45 | NM_001388005.1:c.2857= | NM_001388005.1:c.2857G>T |
| BAG6 transcript variant 55 | NM_001388015.1:c.2752= | NM_001388015.1:c.2752G>T |
| BAG6 transcript variant 40 | NM_001388000.1:c.2749= | NM_001388000.1:c.2749G>T |
| BAG6 transcript variant 36 | NM_001387996.1:c.2860= | NM_001387996.1:c.2860G>T |
| BAG6 transcript variant 34 | NM_001387994.1:c.2860= | NM_001387994.1:c.2860G>T |
| BAG6 transcript variant X3 | XM_047419340.1:c.2803= | XM_047419340.1:c.2803G>T |
| BAG6 transcript variant X2 | XM_047419339.1:c.2803= | XM_047419339.1:c.2803G>T |
| BAG6 transcript variant 28 | NM_001387988.1:c.2857= | NM_001387988.1:c.2857G>T |
| BAG6 transcript variant 27 | NM_001387987.1:c.2749= | NM_001387987.1:c.2749G>T |
| BAG6 transcript variant 25 | NM_001387985.1:c.2887= | NM_001387985.1:c.2887G>T |
| BAG6 transcript variant 24 | NM_001387984.1:c.2860= | NM_001387984.1:c.2860G>T |
| BAG6 transcript variant 47 | NM_001388007.1:c.2749= | NM_001388007.1:c.2749G>T |
| BAG6 transcript variant 46 | NM_001388006.1:c.2860= | NM_001388006.1:c.2860G>T |
| BAG6 transcript variant 13 | NM_001387951.1:c.2752= | NM_001387951.1:c.2752G>T |
| BAG6 transcript variant 12 | NM_001387949.1:c.2749= | NM_001387949.1:c.2749G>T |
| BAG6 transcript variant 10 | NM_001387944.1:c.2698= | NM_001387944.1:c.2698G>T |
| BAG6 transcript variant 9 | NM_001387943.1:c.2860= | NM_001387943.1:c.2860G>T |
| BAG6 transcript variant X8 | XM_047419345.1:c.2806= | XM_047419345.1:c.2806G>T |
| BAG6 transcript variant X13 | XM_047419348.1:c.2698= | XM_047419348.1:c.2698G>T |
| BAG6 transcript variant 39 | NM_001387999.1:c.2752= | NM_001387999.1:c.2752G>T |
| BAG6 transcript variant 38 | NM_001387998.1:c.2749= | NM_001387998.1:c.2749G>T |
| BAG6 transcript variant 53 | NM_001388013.1:c.2695= | NM_001388013.1:c.2695G>T |
| BAG6 transcript variant X11 | XM_047419347.1:c.2803= | XM_047419347.1:c.2803G>T |
| large proline-rich protein BAG6 isoform 2 | NP_542434.1:p.Val918= | NP_542434.1:p.Val918Leu |
| large proline-rich protein BAG6 isoform 2 | NP_542433.1:p.Val918= | NP_542433.1:p.Val918Leu |
| large proline-rich protein BAG6 isoform 2 | NP_001092004.1:p.Val918= | NP_001092004.1:p.Val918Leu |
| large proline-rich protein BAG6 isoform X6 | XP_016866786.1:p.Val935= | XP_016866786.1:p.Val935Leu |
| large proline-rich protein BAG6 isoform 4 | NP_001186627.1:p.Val918= | NP_001186627.1:p.Val918Leu |
| large proline-rich protein BAG6 isoform X7 | XP_016866785.1:p.Val917= | XP_016866785.1:p.Val917Leu |
| large proline-rich protein BAG6 isoform 3 | NP_001186626.1:p.Val792= | NP_001186626.1:p.Val792Leu |
| large proline-rich protein BAG6 isoform 7 | NP_001374921.1:p.Val936= | NP_001374921.1:p.Val936Leu |
| large proline-rich protein BAG6 isoform 7 | NP_001374920.1:p.Val936= | NP_001374920.1:p.Val936Leu |
| large proline-rich protein BAG6 isoform 10 | NP_001374919.1:p.Val917= | NP_001374919.1:p.Val917Leu |
| large proline-rich protein BAG6 isoform 13 | NP_001374912.1:p.Val953= | NP_001374912.1:p.Val953Leu |
| large proline-rich protein BAG6 isoform 14 | NP_001374911.1:p.Val900= | NP_001374911.1:p.Val900Leu |
| large proline-rich protein BAG6 isoform X4 | XP_047275298.1:p.Val899= | XP_047275298.1:p.Val899Leu |
| large proline-rich protein BAG6 isoform 12 | NP_001374894.1:p.Val954= | NP_001374894.1:p.Val954Leu |
| large proline-rich protein BAG6 isoform X1 | XP_047275294.1:p.Val936= | XP_047275294.1:p.Val936Leu |
| large proline-rich protein BAG6 isoform X3 | XP_047275297.1:p.Val953= | XP_047275297.1:p.Val953Leu |
| large proline-rich protein BAG6 isoform 14 | NP_001374893.1:p.Val900= | NP_001374893.1:p.Val900Leu |
| large proline-rich protein BAG6 isoform 15 | NP_001374892.1:p.Val899= | NP_001374892.1:p.Val899Leu |
| large proline-rich protein BAG6 isoform 8 | NP_001374938.1:p.Val927= | NP_001374938.1:p.Val927Leu |
| large proline-rich protein BAG6 isoform X5 | XP_047275300.1:p.Val936= | XP_047275300.1:p.Val936Leu |
| large proline-rich protein BAG6 isoform 9 | NP_001374937.1:p.Val926= | NP_001374937.1:p.Val926Leu |
| large proline-rich protein BAG6 isoform X6 | XP_047275302.1:p.Val935= | XP_047275302.1:p.Val935Leu |
| large proline-rich protein BAG6 isoform 2 | NP_001374890.1:p.Val918= | NP_001374890.1:p.Val918Leu |
| large proline-rich protein BAG6 isoform 18 | NP_001374887.1:p.Val936= | NP_001374887.1:p.Val936Leu |
| large proline-rich protein BAG6 isoform 19 | NP_001374884.1:p.Val917= | NP_001374884.1:p.Val917Leu |
| large proline-rich protein BAG6 isoform 12 | NP_001374883.1:p.Val954= | NP_001374883.1:p.Val954Leu |
| large proline-rich protein BAG6 isoform 14 | NP_001374933.1:p.Val900= | NP_001374933.1:p.Val900Leu |
| large proline-rich protein BAG6 isoform X4 | XP_047275299.1:p.Val899= | XP_047275299.1:p.Val899Leu |
| large proline-rich protein BAG6 isoform 20 | NP_001374875.1:p.Val954= | NP_001374875.1:p.Val954Leu |
| large proline-rich protein BAG6 isoform 16 | NP_001374932.1:p.Val892= | NP_001374932.1:p.Val892Leu |
| large proline-rich protein BAG6 isoform 17 | NP_001374931.1:p.Val891= | NP_001374931.1:p.Val891Leu |
| large proline-rich protein BAG6 isoform X9 | XP_047275305.1:p.Val899= | XP_047275305.1:p.Val899Leu |
| large proline-rich protein BAG6 isoform 22 | NP_001374871.1:p.Val899= | NP_001374871.1:p.Val899Leu |
| large proline-rich protein BAG6 isoform 4 | NP_001374930.1:p.Val918= | NP_001374930.1:p.Val918Leu |
| large proline-rich protein BAG6 isoform 4 | NP_001374869.1:p.Val918= | NP_001374869.1:p.Val918Leu |
| large proline-rich protein BAG6 isoform 4 | NP_001374943.1:p.Val918= | NP_001374943.1:p.Val918Leu |
| large proline-rich protein BAG6 isoform 21 | NP_001374926.1:p.Val900= | NP_001374926.1:p.Val900Leu |
| large proline-rich protein BAG6 isoform 5 | NP_001374949.1:p.Val954= | NP_001374949.1:p.Val954Leu |
| large proline-rich protein BAG6 isoform 6 | NP_001374948.1:p.Val953= | NP_001374948.1:p.Val953Leu |
| large proline-rich protein BAG6 isoform 6 | NP_001374924.1:p.Val953= | NP_001374924.1:p.Val953Leu |
| large proline-rich protein BAG6 isoform 6 | NP_001374922.1:p.Val953= | NP_001374922.1:p.Val953Leu |
| large proline-rich protein BAG6 isoform 2 | NP_001374947.1:p.Val918= | NP_001374947.1:p.Val918Leu |
| large proline-rich protein BAG6 isoform 23 | NP_001374941.1:p.Val963= | NP_001374941.1:p.Val963Leu |
| large proline-rich protein BAG6 isoform 2 | NP_001374946.1:p.Val918= | NP_001374946.1:p.Val918Leu |
| large proline-rich protein BAG6 isoform 13 | NP_001374945.1:p.Val953= | NP_001374945.1:p.Val953Leu |
| large proline-rich protein BAG6 isoform 5 | NP_001374918.1:p.Val954= | NP_001374918.1:p.Val954Leu |
| large proline-rich protein BAG6 isoform 5 | NP_001374940.1:p.Val954= | NP_001374940.1:p.Val954Leu |
| large proline-rich protein BAG6 isoform 6 | NP_001374939.1:p.Val953= | NP_001374939.1:p.Val953Leu |
| large proline-rich protein BAG6 isoform 2 | NP_001374915.1:p.Val918= | NP_001374915.1:p.Val918Leu |
| large proline-rich protein BAG6 isoform 4 | NP_001374885.1:p.Val918= | NP_001374885.1:p.Val918Leu |
| large proline-rich protein BAG6 isoform 13 | NP_001374934.1:p.Val953= | NP_001374934.1:p.Val953Leu |
| large proline-rich protein BAG6 isoform 2 | NP_001374944.1:p.Val918= | NP_001374944.1:p.Val918Leu |
| large proline-rich protein BAG6 isoform 26 | NP_001374929.1:p.Val917= | NP_001374929.1:p.Val917Leu |
| large proline-rich protein BAG6 isoform 5 | NP_001374925.1:p.Val954= | NP_001374925.1:p.Val954Leu |
| large proline-rich protein BAG6 isoform 5 | NP_001374923.1:p.Val954= | NP_001374923.1:p.Val954Leu |
| large proline-rich protein BAG6 isoform X2 | XP_047275296.1:p.Val935= | XP_047275296.1:p.Val935Leu |
| large proline-rich protein BAG6 isoform X2 | XP_047275295.1:p.Val935= | XP_047275295.1:p.Val935Leu |
| large proline-rich protein BAG6 isoform 6 | NP_001374917.1:p.Val953= | NP_001374917.1:p.Val953Leu |
| large proline-rich protein BAG6 isoform 10 | NP_001374916.1:p.Val917= | NP_001374916.1:p.Val917Leu |
| large proline-rich protein BAG6 isoform 11 | NP_001374914.1:p.Val963= | NP_001374914.1:p.Val963Leu |
| large proline-rich protein BAG6 isoform 12 | NP_001374913.1:p.Val954= | NP_001374913.1:p.Val954Leu |
| large proline-rich protein BAG6 isoform 10 | NP_001374936.1:p.Val917= | NP_001374936.1:p.Val917Leu |
| large proline-rich protein BAG6 isoform 12 | NP_001374935.1:p.Val954= | NP_001374935.1:p.Val954Leu |
| large proline-rich protein BAG6 isoform 25 | NP_001374880.1:p.Val918= | NP_001374880.1:p.Val918Leu |
| large proline-rich protein BAG6 isoform 26 | NP_001374878.1:p.Val917= | NP_001374878.1:p.Val917Leu |
| large proline-rich protein BAG6 isoform 21 | NP_001374873.1:p.Val900= | NP_001374873.1:p.Val900Leu |
| large proline-rich protein BAG6 isoform 20 | NP_001374872.1:p.Val954= | NP_001374872.1:p.Val954Leu |
| large proline-rich protein BAG6 isoform X5 | XP_047275301.1:p.Val936= | XP_047275301.1:p.Val936Leu |
| large proline-rich protein BAG6 isoform X8 | XP_047275304.1:p.Val900= | XP_047275304.1:p.Val900Leu |
| large proline-rich protein BAG6 isoform 4 | NP_001374928.1:p.Val918= | NP_001374928.1:p.Val918Leu |
| large proline-rich protein BAG6 isoform 19 | NP_001374927.1:p.Val917= | NP_001374927.1:p.Val917Leu |
| large proline-rich protein BAG6 isoform 24 | NP_001374942.1:p.Val899= | NP_001374942.1:p.Val899Leu |
| large proline-rich protein BAG6 isoform X6 | XP_047275303.1:p.Val935= | XP_047275303.1:p.Val935Leu |
| large proline-rich protein BAG6 isoform a | NP_004630.3:p.Val924= | NP_004630.3:p.Val924Leu |
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Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.
1 SubSNP,
2 Frequency
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | GNOMAD | ss2735653436 | Nov 08, 2017 (151) |
| 2 | gnomAD - Exomes | NC_000006.11 - 31608643 | Jul 13, 2019 (153) |
| 3 | ALFA | NC_000006.12 - 31640866 | Apr 26, 2021 (155) |
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History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
No publications for rs1475995402
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The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genome context:
Select flank length:
Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.