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.
rs1483395243
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr3:152341896 (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
- G>C
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
C=0.000004 (1/264690, TOPMED)C=0.00000 (0/14050, ALFA)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
-
MBNL1 : Intron VariantTMEM14EP : 2KB Upstream 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.
| Population | Group | Sample Size | Ref Allele | Alt Allele | Ref HMOZ | Alt HMOZ | HTRZ | HWEP |
|---|---|---|---|---|---|---|---|---|
| Total | Global | 14050 | G=1.00000 | C=0.00000 | 1.0 | 0.0 | 0.0 | N/A |
| European | Sub | 9690 | G=1.0000 | C=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| African | Sub | 2898 | G=1.0000 | C=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| African Others | Sub | 114 | G=1.000 | C=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| African American | Sub | 2784 | G=1.0000 | C=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| Asian | Sub | 112 | G=1.000 | C=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| East Asian | Sub | 86 | G=1.00 | C=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Other Asian | Sub | 26 | G=1.00 | C=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 1 | Sub | 146 | G=1.000 | C=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 2 | Sub | 610 | G=1.000 | C=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| South Asian | Sub | 98 | G=1.00 | C=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Other | Sub | 496 | G=1.000 | C=0.000 | 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 |
|---|---|---|---|---|---|
| TopMed | Global | Study-wide | 264690 | G=0.999996 | C=0.000004 |
| Allele Frequency Aggregator | Total | Global | 14050 | G=1.00000 | C=0.00000 |
| Allele Frequency Aggregator | European | Sub | 9690 | G=1.0000 | C=0.0000 |
| Allele Frequency Aggregator | African | Sub | 2898 | G=1.0000 | C=0.0000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 610 | G=1.000 | C=0.000 |
| Allele Frequency Aggregator | Other | Sub | 496 | G=1.000 | C=0.000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 146 | G=1.000 | C=0.000 |
| Allele Frequency Aggregator | Asian | Sub | 112 | G=1.000 | C=0.000 |
| Allele Frequency Aggregator | South Asian | Sub | 98 | G=1.00 | C=0.00 |
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.
| Sequence name | Change |
|---|---|
| GRCh38.p14 chr 3 | NC_000003.12:g.152341896G>C |
| GRCh37.p13 chr 3 | NC_000003.11:g.152059685G>C |
| MBNL1 RefSeqGene | NG_047058.1:g.102576G>C |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| MBNL1 transcript variant 8 |
NM_001314057.2:c.-56+6666… NM_001314057.2:c.-56+6666G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 9 |
NM_001363870.1:c.174+4152… NM_001363870.1:c.174+41529G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 10 |
NM_001376818.1:c.267+4092… NM_001376818.1:c.267+40923G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 11 |
NM_001376819.1:c.267+4092… NM_001376819.1:c.267+40923G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 12 |
NM_001376820.1:c.174+4152… NM_001376820.1:c.174+41529G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 13 |
NM_001376821.1:c.174+4152… NM_001376821.1:c.174+41529G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 14 |
NM_001376822.1:c.174+4152… NM_001376822.1:c.174+41529G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 15 |
NM_001376823.1:c.174+4152… NM_001376823.1:c.174+41529G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 16 |
NM_001376824.1:c.174+4152… NM_001376824.1:c.174+41529G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 17 |
NM_001376825.1:c.174+4152… NM_001376825.1:c.174+41529G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 18 |
NM_001376826.1:c.174+4152… NM_001376826.1:c.174+41529G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 19 |
NM_001376827.1:c.174+4152… NM_001376827.1:c.174+41529G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 20 |
NM_001376828.1:c.174+4152… NM_001376828.1:c.174+41529G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 21 |
NM_001376829.1:c.174+4152… NM_001376829.1:c.174+41529G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 22 |
NM_001376830.1:c.174+4152… NM_001376830.1:c.174+41529G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 23 |
NM_001376831.1:c.174+4152… NM_001376831.1:c.174+41529G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 24 |
NM_001376832.1:c.174+4152… NM_001376832.1:c.174+41529G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 25 |
NM_001376833.1:c.174+4152… NM_001376833.1:c.174+41529G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 26 |
NM_001376834.1:c.174+4152… NM_001376834.1:c.174+41529G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 27 |
NM_001376835.1:c.174+4152… NM_001376835.1:c.174+41529G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 28 |
NM_001376836.1:c.174+4152… NM_001376836.1:c.174+41529G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 29 | NM_001376837.1:c.6+6666G>C | N/A | Intron Variant |
| MBNL1 transcript variant 30 |
NM_001376838.1:c.174+4152… NM_001376838.1:c.174+41529G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 31 |
NM_001376839.1:c.-102-730… NM_001376839.1:c.-102-73045G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 32 |
NM_001376840.1:c.-102-730… NM_001376840.1:c.-102-73045G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 33 |
NM_001376841.1:c.-103+728… NM_001376841.1:c.-103+72804G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 34 |
NM_001376842.1:c.-103+724… NM_001376842.1:c.-103+72489G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 35 |
NM_001376843.1:c.-103+415… NM_001376843.1:c.-103+41529G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 36 |
NM_001376844.1:c.-103+728… NM_001376844.1:c.-103+72804G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 37 |
NM_001376845.1:c.-102-730… NM_001376845.1:c.-102-73045G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 38 |
NM_001376846.1:c.-103+724… NM_001376846.1:c.-103+72489G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 39 |
NM_001376847.1:c.-4+72804… NM_001376847.1:c.-4+72804G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 40 |
NM_001376848.1:c.-103+724… NM_001376848.1:c.-103+72489G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 41 |
NM_001376849.1:c.-103+724… NM_001376849.1:c.-103+72489G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 42 |
NM_001376851.1:c.-103+728… NM_001376851.1:c.-103+72804G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 43 |
NM_001376853.1:c.174+4152… NM_001376853.1:c.174+41529G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 114 |
NM_001387781.1:c.267+4092… NM_001387781.1:c.267+40923G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 52 |
NM_001387782.1:c.267+4092… NM_001387782.1:c.267+40923G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 53 |
NM_001387783.1:c.267+4092… NM_001387783.1:c.267+40923G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 54 |
NM_001387784.1:c.267+4092… NM_001387784.1:c.267+40923G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 55 |
NM_001387785.1:c.174+4152… NM_001387785.1:c.174+41529G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 56 |
NM_001387786.1:c.174+4152… NM_001387786.1:c.174+41529G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 57 |
NM_001387787.1:c.174+4152… NM_001387787.1:c.174+41529G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 58 |
NM_001387788.1:c.174+4152… NM_001387788.1:c.174+41529G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 59 |
NM_001387789.1:c.174+4152… NM_001387789.1:c.174+41529G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 60 |
NM_001387790.1:c.174+4152… NM_001387790.1:c.174+41529G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 61 | NM_001387791.1:c.6+6666G>C | N/A | Intron Variant |
| MBNL1 transcript variant 62 |
NM_001387792.1:c.174+4152… NM_001387792.1:c.174+41529G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 63 |
NM_001387793.1:c.174+4152… NM_001387793.1:c.174+41529G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 64 |
NM_001387794.1:c.174+4152… NM_001387794.1:c.174+41529G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 65 |
NM_001387795.1:c.174+4152… NM_001387795.1:c.174+41529G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 66 |
NM_001387796.1:c.174+4152… NM_001387796.1:c.174+41529G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 67 | NM_001387797.1:c.6+6666G>C | N/A | Intron Variant |
| MBNL1 transcript variant 68 | NM_001387798.1:c.6+6666G>C | N/A | Intron Variant |
| MBNL1 transcript variant 69 |
NM_001387799.1:c.6+16379G… NM_001387799.1:c.6+16379G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 70 |
NM_001387800.1:c.-55-5427… NM_001387800.1:c.-55-54271G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 71 |
NM_001387801.1:c.174+4152… NM_001387801.1:c.174+41529G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 72 |
NM_001387802.1:c.174+4152… NM_001387802.1:c.174+41529G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 73 | NM_001387803.1:c.6+6666G>C | N/A | Intron Variant |
| MBNL1 transcript variant 74 |
NM_001387804.1:c.-103+728… NM_001387804.1:c.-103+72804G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 75 |
NM_001387805.1:c.-103+322… NM_001387805.1:c.-103+3223G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 76 |
NM_001387806.1:c.-103+322… NM_001387806.1:c.-103+3223G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 77 |
NM_001387807.1:c.-103+415… NM_001387807.1:c.-103+41529G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 78 |
NM_001387808.1:c.-103+724… NM_001387808.1:c.-103+72489G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 79 |
NM_001387809.1:c.-103+728… NM_001387809.1:c.-103+72804G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 80 |
NM_001387810.1:c.-103+322… NM_001387810.1:c.-103+3223G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 81 |
NM_001387811.1:c.-103+322… NM_001387811.1:c.-103+3223G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 82 |
NM_001387812.1:c.-103+322… NM_001387812.1:c.-103+3223G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 83 |
NM_001387813.1:c.-103+415… NM_001387813.1:c.-103+41529G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 84 |
NM_001387814.1:c.-103+322… NM_001387814.1:c.-103+3223G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 85 |
NM_001387815.1:c.-103+322… NM_001387815.1:c.-103+3223G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 86 |
NM_001387816.1:c.-103+721… NM_001387816.1:c.-103+72118G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 87 |
NM_001387817.1:c.-103+322… NM_001387817.1:c.-103+3223G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 88 |
NM_001387818.1:c.-103+415… NM_001387818.1:c.-103+41529G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 89 |
NM_001387819.1:c.174+4152… NM_001387819.1:c.174+41529G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 90 |
NM_001387820.1:c.174+4152… NM_001387820.1:c.174+41529G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 91 |
NM_001387821.1:c.-3-90821… NM_001387821.1:c.-3-90821G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 92 |
NM_001387822.1:c.-102-730… NM_001387822.1:c.-102-73045G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 93 |
NM_001387823.1:c.-103+728… NM_001387823.1:c.-103+72804G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 94 |
NM_001387824.1:c.-103+724… NM_001387824.1:c.-103+72489G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 95 |
NM_001387825.1:c.-103+728… NM_001387825.1:c.-103+72804G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 96 |
NM_001387826.1:c.-103+724… NM_001387826.1:c.-103+72489G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 97 |
NM_001387827.1:c.-103+415… NM_001387827.1:c.-103+41529G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 98 |
NM_001387828.1:c.-103+728… NM_001387828.1:c.-103+72804G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 99 |
NM_001387829.1:c.-103+724… NM_001387829.1:c.-103+72489G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 100 |
NM_001387830.1:c.-103+728… NM_001387830.1:c.-103+72804G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 101 |
NM_001387831.1:c.-102-730… NM_001387831.1:c.-102-73045G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 102 |
NM_001387832.1:c.-103+728… NM_001387832.1:c.-103+72804G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 103 |
NM_001387833.1:c.-103+724… NM_001387833.1:c.-103+72489G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 104 |
NM_001387834.1:c.-79+7280… NM_001387834.1:c.-79+72804G>C |
N/A | Intron Variant |
| MBNL1 transcript variant 1 | NM_021038.5:c.174+41529G>C | N/A | Intron Variant |
| MBNL1 transcript variant 2 | NM_207292.3:c.174+41529G>C | N/A | Intron Variant |
| MBNL1 transcript variant 3 | NM_207293.2:c.174+41529G>C | N/A | Intron Variant |
| MBNL1 transcript variant 4 | NM_207294.2:c.174+41529G>C | N/A | Intron Variant |
| MBNL1 transcript variant 5 | NM_207295.2:c.174+41529G>C | N/A | Intron Variant |
| MBNL1 transcript variant 6 | NM_207296.2:c.174+41529G>C | N/A | Intron Variant |
| MBNL1 transcript variant 7 | NM_207297.2:c.174+41529G>C | N/A | Intron Variant |
| MBNL1 transcript variant 44 | NR_164857.1:n. | N/A | Intron Variant |
| MBNL1 transcript variant 45 | NR_164858.1:n. | N/A | Intron Variant |
| MBNL1 transcript variant 46 | NR_164860.1:n. | N/A | Intron Variant |
| MBNL1 transcript variant 47 | NR_164861.1:n. | N/A | Intron Variant |
| MBNL1 transcript variant 48 | NR_164862.1:n. | N/A | Intron Variant |
| MBNL1 transcript variant 49 | NR_164863.1:n. | N/A | Intron Variant |
| MBNL1 transcript variant 50 | NR_164864.1:n. | N/A | Intron Variant |
| MBNL1 transcript variant 51 | NR_164865.1:n. | N/A | Intron Variant |
| MBNL1 transcript variant 105 | NR_170696.1:n. | N/A | Intron Variant |
| MBNL1 transcript variant 106 | NR_170697.1:n. | N/A | Intron Variant |
| MBNL1 transcript variant 107 | NR_170698.1:n. | N/A | Intron Variant |
| MBNL1 transcript variant 108 | NR_170700.1:n. | N/A | Intron Variant |
| MBNL1 transcript variant 109 | NR_170701.1:n. | N/A | Intron Variant |
| MBNL1 transcript variant 110 | NR_170702.1:n. | N/A | Intron Variant |
| MBNL1 transcript variant 111 | NR_170703.1:n. | N/A | Intron Variant |
| MBNL1 transcript variant X1 |
XM_005247458.6:c.267+4092… XM_005247458.6:c.267+40923G>C |
N/A | Intron Variant |
| MBNL1 transcript variant X2 |
XM_005247461.5:c.267+4092… XM_005247461.5:c.267+40923G>C |
N/A | Intron Variant |
| MBNL1 transcript variant X4 |
XM_047448135.1:c.174+4152… XM_047448135.1:c.174+41529G>C |
N/A | Intron Variant |
| MBNL1 transcript variant X5 |
XM_047448136.1:c.174+4152… XM_047448136.1:c.174+41529G>C |
N/A | Intron Variant |
| MBNL1 transcript variant X6 |
XM_047448137.1:c.174+4152… XM_047448137.1:c.174+41529G>C |
N/A | Intron Variant |
| MBNL1 transcript variant X7 |
XM_047448138.1:c.174+4152… XM_047448138.1:c.174+41529G>C |
N/A | Intron Variant |
| MBNL1 transcript variant X8 |
XM_047448139.1:c.174+4152… XM_047448139.1:c.174+41529G>C |
N/A | Intron Variant |
| MBNL1 transcript variant X9 | XM_047448140.1:c.6+6666G>C | N/A | Intron Variant |
| MBNL1 transcript variant X10 |
XM_047448141.1:c.174+4152… XM_047448141.1:c.174+41529G>C |
N/A | Intron Variant |
| MBNL1 transcript variant X11 |
XM_047448142.1:c.174+4152… XM_047448142.1:c.174+41529G>C |
N/A | Intron Variant |
| MBNL1 transcript variant X12 | XM_047448143.1:c.6+6666G>C | N/A | Intron Variant |
| MBNL1 transcript variant X13 |
XM_047448144.1:c.174+4152… XM_047448144.1:c.174+41529G>C |
N/A | Intron Variant |
| MBNL1 transcript variant X14 |
XM_047448145.1:c.174+4152… XM_047448145.1:c.174+41529G>C |
N/A | Intron Variant |
| MBNL1 transcript variant X15 | XM_047448146.1:c.6+6666G>C | N/A | Intron Variant |
| MBNL1 transcript variant X16 |
XM_047448147.1:c.174+4152… XM_047448147.1:c.174+41529G>C |
N/A | Intron Variant |
| MBNL1 transcript variant X17 | XM_047448148.1:c.6+6666G>C | N/A | Intron Variant |
| MBNL1 transcript variant X18 | XM_047448149.1:c.6+6666G>C | N/A | Intron Variant |
| MBNL1 transcript variant X3 | XR_007095679.1:n. | N/A | Intron Variant |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| TMEM14EP transcript | NR_132656.1:n. | N/A | Upstream Transcript Variant |
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.
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 | G= | C |
|---|---|---|
| GRCh38.p14 chr 3 | NC_000003.12:g.152341896= | NC_000003.12:g.152341896G>C |
| GRCh37.p13 chr 3 | NC_000003.11:g.152059685= | NC_000003.11:g.152059685G>C |
| MBNL1 RefSeqGene | NG_047058.1:g.102576= | NG_047058.1:g.102576G>C |
| MBNL1 transcript variant 8 | NM_001314057.2:c.-56+6666= | NM_001314057.2:c.-56+6666G>C |
| MBNL1 transcript variant 9 | NM_001363870.1:c.174+41529= | NM_001363870.1:c.174+41529G>C |
| MBNL1 transcript variant 10 | NM_001376818.1:c.267+40923= | NM_001376818.1:c.267+40923G>C |
| MBNL1 transcript variant 11 | NM_001376819.1:c.267+40923= | NM_001376819.1:c.267+40923G>C |
| MBNL1 transcript variant 12 | NM_001376820.1:c.174+41529= | NM_001376820.1:c.174+41529G>C |
| MBNL1 transcript variant 13 | NM_001376821.1:c.174+41529= | NM_001376821.1:c.174+41529G>C |
| MBNL1 transcript variant 14 | NM_001376822.1:c.174+41529= | NM_001376822.1:c.174+41529G>C |
| MBNL1 transcript variant 15 | NM_001376823.1:c.174+41529= | NM_001376823.1:c.174+41529G>C |
| MBNL1 transcript variant 16 | NM_001376824.1:c.174+41529= | NM_001376824.1:c.174+41529G>C |
| MBNL1 transcript variant 17 | NM_001376825.1:c.174+41529= | NM_001376825.1:c.174+41529G>C |
| MBNL1 transcript variant 18 | NM_001376826.1:c.174+41529= | NM_001376826.1:c.174+41529G>C |
| MBNL1 transcript variant 19 | NM_001376827.1:c.174+41529= | NM_001376827.1:c.174+41529G>C |
| MBNL1 transcript variant 20 | NM_001376828.1:c.174+41529= | NM_001376828.1:c.174+41529G>C |
| MBNL1 transcript variant 21 | NM_001376829.1:c.174+41529= | NM_001376829.1:c.174+41529G>C |
| MBNL1 transcript variant 22 | NM_001376830.1:c.174+41529= | NM_001376830.1:c.174+41529G>C |
| MBNL1 transcript variant 23 | NM_001376831.1:c.174+41529= | NM_001376831.1:c.174+41529G>C |
| MBNL1 transcript variant 24 | NM_001376832.1:c.174+41529= | NM_001376832.1:c.174+41529G>C |
| MBNL1 transcript variant 25 | NM_001376833.1:c.174+41529= | NM_001376833.1:c.174+41529G>C |
| MBNL1 transcript variant 26 | NM_001376834.1:c.174+41529= | NM_001376834.1:c.174+41529G>C |
| MBNL1 transcript variant 27 | NM_001376835.1:c.174+41529= | NM_001376835.1:c.174+41529G>C |
| MBNL1 transcript variant 28 | NM_001376836.1:c.174+41529= | NM_001376836.1:c.174+41529G>C |
| MBNL1 transcript variant 29 | NM_001376837.1:c.6+6666= | NM_001376837.1:c.6+6666G>C |
| MBNL1 transcript variant 30 | NM_001376838.1:c.174+41529= | NM_001376838.1:c.174+41529G>C |
| MBNL1 transcript variant 31 | NM_001376839.1:c.-102-73045= | NM_001376839.1:c.-102-73045G>C |
| MBNL1 transcript variant 32 | NM_001376840.1:c.-102-73045= | NM_001376840.1:c.-102-73045G>C |
| MBNL1 transcript variant 33 | NM_001376841.1:c.-103+72804= | NM_001376841.1:c.-103+72804G>C |
| MBNL1 transcript variant 34 | NM_001376842.1:c.-103+72489= | NM_001376842.1:c.-103+72489G>C |
| MBNL1 transcript variant 35 | NM_001376843.1:c.-103+41529= | NM_001376843.1:c.-103+41529G>C |
| MBNL1 transcript variant 36 | NM_001376844.1:c.-103+72804= | NM_001376844.1:c.-103+72804G>C |
| MBNL1 transcript variant 37 | NM_001376845.1:c.-102-73045= | NM_001376845.1:c.-102-73045G>C |
| MBNL1 transcript variant 38 | NM_001376846.1:c.-103+72489= | NM_001376846.1:c.-103+72489G>C |
| MBNL1 transcript variant 39 | NM_001376847.1:c.-4+72804= | NM_001376847.1:c.-4+72804G>C |
| MBNL1 transcript variant 40 | NM_001376848.1:c.-103+72489= | NM_001376848.1:c.-103+72489G>C |
| MBNL1 transcript variant 41 | NM_001376849.1:c.-103+72489= | NM_001376849.1:c.-103+72489G>C |
| MBNL1 transcript variant 42 | NM_001376851.1:c.-103+72804= | NM_001376851.1:c.-103+72804G>C |
| MBNL1 transcript variant 43 | NM_001376853.1:c.174+41529= | NM_001376853.1:c.174+41529G>C |
| MBNL1 transcript variant 114 | NM_001387781.1:c.267+40923= | NM_001387781.1:c.267+40923G>C |
| MBNL1 transcript variant 52 | NM_001387782.1:c.267+40923= | NM_001387782.1:c.267+40923G>C |
| MBNL1 transcript variant 53 | NM_001387783.1:c.267+40923= | NM_001387783.1:c.267+40923G>C |
| MBNL1 transcript variant 54 | NM_001387784.1:c.267+40923= | NM_001387784.1:c.267+40923G>C |
| MBNL1 transcript variant 55 | NM_001387785.1:c.174+41529= | NM_001387785.1:c.174+41529G>C |
| MBNL1 transcript variant 56 | NM_001387786.1:c.174+41529= | NM_001387786.1:c.174+41529G>C |
| MBNL1 transcript variant 57 | NM_001387787.1:c.174+41529= | NM_001387787.1:c.174+41529G>C |
| MBNL1 transcript variant 58 | NM_001387788.1:c.174+41529= | NM_001387788.1:c.174+41529G>C |
| MBNL1 transcript variant 59 | NM_001387789.1:c.174+41529= | NM_001387789.1:c.174+41529G>C |
| MBNL1 transcript variant 60 | NM_001387790.1:c.174+41529= | NM_001387790.1:c.174+41529G>C |
| MBNL1 transcript variant 61 | NM_001387791.1:c.6+6666= | NM_001387791.1:c.6+6666G>C |
| MBNL1 transcript variant 62 | NM_001387792.1:c.174+41529= | NM_001387792.1:c.174+41529G>C |
| MBNL1 transcript variant 63 | NM_001387793.1:c.174+41529= | NM_001387793.1:c.174+41529G>C |
| MBNL1 transcript variant 64 | NM_001387794.1:c.174+41529= | NM_001387794.1:c.174+41529G>C |
| MBNL1 transcript variant 65 | NM_001387795.1:c.174+41529= | NM_001387795.1:c.174+41529G>C |
| MBNL1 transcript variant 66 | NM_001387796.1:c.174+41529= | NM_001387796.1:c.174+41529G>C |
| MBNL1 transcript variant 67 | NM_001387797.1:c.6+6666= | NM_001387797.1:c.6+6666G>C |
| MBNL1 transcript variant 68 | NM_001387798.1:c.6+6666= | NM_001387798.1:c.6+6666G>C |
| MBNL1 transcript variant 69 | NM_001387799.1:c.6+16379= | NM_001387799.1:c.6+16379G>C |
| MBNL1 transcript variant 70 | NM_001387800.1:c.-55-54271= | NM_001387800.1:c.-55-54271G>C |
| MBNL1 transcript variant 71 | NM_001387801.1:c.174+41529= | NM_001387801.1:c.174+41529G>C |
| MBNL1 transcript variant 72 | NM_001387802.1:c.174+41529= | NM_001387802.1:c.174+41529G>C |
| MBNL1 transcript variant 73 | NM_001387803.1:c.6+6666= | NM_001387803.1:c.6+6666G>C |
| MBNL1 transcript variant 74 | NM_001387804.1:c.-103+72804= | NM_001387804.1:c.-103+72804G>C |
| MBNL1 transcript variant 75 | NM_001387805.1:c.-103+3223= | NM_001387805.1:c.-103+3223G>C |
| MBNL1 transcript variant 76 | NM_001387806.1:c.-103+3223= | NM_001387806.1:c.-103+3223G>C |
| MBNL1 transcript variant 77 | NM_001387807.1:c.-103+41529= | NM_001387807.1:c.-103+41529G>C |
| MBNL1 transcript variant 78 | NM_001387808.1:c.-103+72489= | NM_001387808.1:c.-103+72489G>C |
| MBNL1 transcript variant 79 | NM_001387809.1:c.-103+72804= | NM_001387809.1:c.-103+72804G>C |
| MBNL1 transcript variant 80 | NM_001387810.1:c.-103+3223= | NM_001387810.1:c.-103+3223G>C |
| MBNL1 transcript variant 81 | NM_001387811.1:c.-103+3223= | NM_001387811.1:c.-103+3223G>C |
| MBNL1 transcript variant 82 | NM_001387812.1:c.-103+3223= | NM_001387812.1:c.-103+3223G>C |
| MBNL1 transcript variant 83 | NM_001387813.1:c.-103+41529= | NM_001387813.1:c.-103+41529G>C |
| MBNL1 transcript variant 84 | NM_001387814.1:c.-103+3223= | NM_001387814.1:c.-103+3223G>C |
| MBNL1 transcript variant 85 | NM_001387815.1:c.-103+3223= | NM_001387815.1:c.-103+3223G>C |
| MBNL1 transcript variant 86 | NM_001387816.1:c.-103+72118= | NM_001387816.1:c.-103+72118G>C |
| MBNL1 transcript variant 87 | NM_001387817.1:c.-103+3223= | NM_001387817.1:c.-103+3223G>C |
| MBNL1 transcript variant 88 | NM_001387818.1:c.-103+41529= | NM_001387818.1:c.-103+41529G>C |
| MBNL1 transcript variant 89 | NM_001387819.1:c.174+41529= | NM_001387819.1:c.174+41529G>C |
| MBNL1 transcript variant 90 | NM_001387820.1:c.174+41529= | NM_001387820.1:c.174+41529G>C |
| MBNL1 transcript variant 91 | NM_001387821.1:c.-3-90821= | NM_001387821.1:c.-3-90821G>C |
| MBNL1 transcript variant 92 | NM_001387822.1:c.-102-73045= | NM_001387822.1:c.-102-73045G>C |
| MBNL1 transcript variant 93 | NM_001387823.1:c.-103+72804= | NM_001387823.1:c.-103+72804G>C |
| MBNL1 transcript variant 94 | NM_001387824.1:c.-103+72489= | NM_001387824.1:c.-103+72489G>C |
| MBNL1 transcript variant 95 | NM_001387825.1:c.-103+72804= | NM_001387825.1:c.-103+72804G>C |
| MBNL1 transcript variant 96 | NM_001387826.1:c.-103+72489= | NM_001387826.1:c.-103+72489G>C |
| MBNL1 transcript variant 97 | NM_001387827.1:c.-103+41529= | NM_001387827.1:c.-103+41529G>C |
| MBNL1 transcript variant 98 | NM_001387828.1:c.-103+72804= | NM_001387828.1:c.-103+72804G>C |
| MBNL1 transcript variant 99 | NM_001387829.1:c.-103+72489= | NM_001387829.1:c.-103+72489G>C |
| MBNL1 transcript variant 100 | NM_001387830.1:c.-103+72804= | NM_001387830.1:c.-103+72804G>C |
| MBNL1 transcript variant 101 | NM_001387831.1:c.-102-73045= | NM_001387831.1:c.-102-73045G>C |
| MBNL1 transcript variant 102 | NM_001387832.1:c.-103+72804= | NM_001387832.1:c.-103+72804G>C |
| MBNL1 transcript variant 103 | NM_001387833.1:c.-103+72489= | NM_001387833.1:c.-103+72489G>C |
| MBNL1 transcript variant 104 | NM_001387834.1:c.-79+72804= | NM_001387834.1:c.-79+72804G>C |
| MBNL1 transcript variant 1 | NM_021038.3:c.174+41529= | NM_021038.3:c.174+41529G>C |
| MBNL1 transcript variant 1 | NM_021038.5:c.174+41529= | NM_021038.5:c.174+41529G>C |
| MBNL1 transcript variant 2 | NM_207292.1:c.174+41529= | NM_207292.1:c.174+41529G>C |
| MBNL1 transcript variant 2 | NM_207292.3:c.174+41529= | NM_207292.3:c.174+41529G>C |
| MBNL1 transcript variant 3 | NM_207293.1:c.174+41529= | NM_207293.1:c.174+41529G>C |
| MBNL1 transcript variant 3 | NM_207293.2:c.174+41529= | NM_207293.2:c.174+41529G>C |
| MBNL1 transcript variant 4 | NM_207294.1:c.174+41529= | NM_207294.1:c.174+41529G>C |
| MBNL1 transcript variant 4 | NM_207294.2:c.174+41529= | NM_207294.2:c.174+41529G>C |
| MBNL1 transcript variant 5 | NM_207295.1:c.174+41529= | NM_207295.1:c.174+41529G>C |
| MBNL1 transcript variant 5 | NM_207295.2:c.174+41529= | NM_207295.2:c.174+41529G>C |
| MBNL1 transcript variant 6 | NM_207296.1:c.174+41529= | NM_207296.1:c.174+41529G>C |
| MBNL1 transcript variant 6 | NM_207296.2:c.174+41529= | NM_207296.2:c.174+41529G>C |
| MBNL1 transcript variant 7 | NM_207297.1:c.174+41529= | NM_207297.1:c.174+41529G>C |
| MBNL1 transcript variant 7 | NM_207297.2:c.174+41529= | NM_207297.2:c.174+41529G>C |
| MBNL1 transcript variant X1 | XM_005247457.1:c.267+40923= | XM_005247457.1:c.267+40923G>C |
| MBNL1 transcript variant X2 | XM_005247458.1:c.267+40923= | XM_005247458.1:c.267+40923G>C |
| MBNL1 transcript variant X1 | XM_005247458.6:c.267+40923= | XM_005247458.6:c.267+40923G>C |
| MBNL1 transcript variant X3 | XM_005247459.1:c.267+40923= | XM_005247459.1:c.267+40923G>C |
| MBNL1 transcript variant X4 | XM_005247460.1:c.267+40923= | XM_005247460.1:c.267+40923G>C |
| MBNL1 transcript variant X5 | XM_005247461.1:c.267+40923= | XM_005247461.1:c.267+40923G>C |
| MBNL1 transcript variant X2 | XM_005247461.5:c.267+40923= | XM_005247461.5:c.267+40923G>C |
| MBNL1 transcript variant X6 | XM_005247462.1:c.267+40923= | XM_005247462.1:c.267+40923G>C |
| MBNL1 transcript variant X7 | XM_005247463.1:c.267+40923= | XM_005247463.1:c.267+40923G>C |
| MBNL1 transcript variant X8 | XM_005247464.1:c.174+41529= | XM_005247464.1:c.174+41529G>C |
| MBNL1 transcript variant X9 | XM_005247465.1:c.267+40923= | XM_005247465.1:c.267+40923G>C |
| MBNL1 transcript variant X10 | XM_005247466.1:c.174+41529= | XM_005247466.1:c.174+41529G>C |
| MBNL1 transcript variant X11 | XM_005247467.1:c.267+40923= | XM_005247467.1:c.267+40923G>C |
| MBNL1 transcript variant X12 | XM_005247468.1:c.267+40923= | XM_005247468.1:c.267+40923G>C |
| MBNL1 transcript variant X13 | XM_005247469.1:c.6+6666= | XM_005247469.1:c.6+6666G>C |
| MBNL1 transcript variant X15 | XM_005247471.1:c.174+41529= | XM_005247471.1:c.174+41529G>C |
| MBNL1 transcript variant X16 | XM_005247472.1:c.-103+3223= | XM_005247472.1:c.-103+3223G>C |
| MBNL1 transcript variant X17 | XM_005247473.1:c.-103+3223= | XM_005247473.1:c.-103+3223G>C |
| MBNL1 transcript variant X18 | XM_005247474.1:c.-103+72804= | XM_005247474.1:c.-103+72804G>C |
| MBNL1 transcript variant X19 | XM_005247475.1:c.-102-73045= | XM_005247475.1:c.-102-73045G>C |
| MBNL1 transcript variant X20 | XM_005247476.1:c.-103+72804= | XM_005247476.1:c.-103+72804G>C |
| MBNL1 transcript variant X21 | XM_005247477.1:c.-103+72489= | XM_005247477.1:c.-103+72489G>C |
| MBNL1 transcript variant X4 | XM_047448135.1:c.174+41529= | XM_047448135.1:c.174+41529G>C |
| MBNL1 transcript variant X5 | XM_047448136.1:c.174+41529= | XM_047448136.1:c.174+41529G>C |
| MBNL1 transcript variant X6 | XM_047448137.1:c.174+41529= | XM_047448137.1:c.174+41529G>C |
| MBNL1 transcript variant X7 | XM_047448138.1:c.174+41529= | XM_047448138.1:c.174+41529G>C |
| MBNL1 transcript variant X8 | XM_047448139.1:c.174+41529= | XM_047448139.1:c.174+41529G>C |
| MBNL1 transcript variant X9 | XM_047448140.1:c.6+6666= | XM_047448140.1:c.6+6666G>C |
| MBNL1 transcript variant X10 | XM_047448141.1:c.174+41529= | XM_047448141.1:c.174+41529G>C |
| MBNL1 transcript variant X11 | XM_047448142.1:c.174+41529= | XM_047448142.1:c.174+41529G>C |
| MBNL1 transcript variant X12 | XM_047448143.1:c.6+6666= | XM_047448143.1:c.6+6666G>C |
| MBNL1 transcript variant X13 | XM_047448144.1:c.174+41529= | XM_047448144.1:c.174+41529G>C |
| MBNL1 transcript variant X14 | XM_047448145.1:c.174+41529= | XM_047448145.1:c.174+41529G>C |
| MBNL1 transcript variant X15 | XM_047448146.1:c.6+6666= | XM_047448146.1:c.6+6666G>C |
| MBNL1 transcript variant X16 | XM_047448147.1:c.174+41529= | XM_047448147.1:c.174+41529G>C |
| MBNL1 transcript variant X17 | XM_047448148.1:c.6+6666= | XM_047448148.1:c.6+6666G>C |
| MBNL1 transcript variant X18 | XM_047448149.1:c.6+6666= | XM_047448149.1:c.6+6666G>C |
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#.
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | TOPMED | ss4588739372 | Apr 26, 2021 (155) |
| 2 | TopMed | NC_000003.12 - 152341896 | Apr 26, 2021 (155) |
| 3 | ALFA | NC_000003.12 - 152341896 | Apr 26, 2021 (155) |
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).
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
No publications for rs1483395243
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genomic regions, transcripts, and products
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Help
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.