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.
rs1479396976
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr11:74851117 (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 (1/248480, GnomAD_exome)A=0.00005 (1/21378, ALFA)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- XRRA1 : 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 | 21378 | C=0.99995 | A=0.00005 | 0.999906 | 0.0 | 9.4e-05 | 0 |
| European | Sub | 16894 | C=0.99994 | A=0.00006 | 0.999882 | 0.0 | 0.000118 | 0 |
| African | Sub | 20 | C=1.00 | A=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| African Others | Sub | 0 | C=0 | A=0 | 0 | 0 | 0 | N/A |
| African American | Sub | 20 | C=1.00 | A=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Asian | Sub | 0 | C=0 | A=0 | 0 | 0 | 0 | N/A |
| East Asian | Sub | 0 | C=0 | A=0 | 0 | 0 | 0 | N/A |
| Other Asian | Sub | 0 | C=0 | A=0 | 0 | 0 | 0 | N/A |
| Latin American 1 | Sub | 354 | C=1.000 | A=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 2 | Sub | 18 | C=1.00 | A=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| South Asian | Sub | 0 | C=0 | A=0 | 0 | 0 | 0 | N/A |
| Other | Sub | 4092 | 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 | 248480 | C=0.999996 | A=0.000004 |
| gnomAD - Exomes | European | Sub | 134132 | C=0.999993 | A=0.000007 |
| gnomAD - Exomes | Asian | Sub | 48434 | C=1.00000 | A=0.00000 |
| gnomAD - Exomes | American | Sub | 34388 | C=1.00000 | A=0.00000 |
| gnomAD - Exomes | African | Sub | 15472 | C=1.00000 | A=0.00000 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 10026 | C=1.00000 | A=0.00000 |
| gnomAD - Exomes | Other | Sub | 6028 | C=1.0000 | A=0.0000 |
| Allele Frequency Aggregator | Total | Global | 21378 | C=0.99995 | A=0.00005 |
| Allele Frequency Aggregator | European | Sub | 16894 | C=0.99994 | A=0.00006 |
| Allele Frequency Aggregator | Other | Sub | 4092 | C=1.0000 | A=0.0000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 354 | C=1.000 | A=0.000 |
| Allele Frequency Aggregator | African | Sub | 20 | C=1.00 | A=0.00 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 18 | C=1.00 | A=0.00 |
| Allele Frequency Aggregator | South Asian | Sub | 0 | C=0 | A=0 |
| Allele Frequency Aggregator | 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 11 | NC_000011.10:g.74851117C>A |
| GRCh37.p13 chr 11 | NC_000011.9:g.74562162C>A |
Gene: XRRA1, X-ray radiation resistance associated 1
(minus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| XRRA1 transcript variant 6 |
NM_001378159.1:c.1045-265… NM_001378159.1:c.1045-2655G>T |
N/A | Intron Variant |
| XRRA1 transcript variant 7 |
NM_001378160.1:c.1045-265… NM_001378160.1:c.1045-2655G>T |
N/A | Intron Variant |
| XRRA1 transcript variant 10 |
NM_001378163.1:c.322-2655… NM_001378163.1:c.322-2655G>T |
N/A | Intron Variant |
| XRRA1 transcript variant 11 |
NM_001378164.1:c.322-2655… NM_001378164.1:c.322-2655G>T |
N/A | Intron Variant |
| XRRA1 transcript variant 19 |
NM_001378172.1:c.322-2655… NM_001378172.1:c.322-2655G>T |
N/A | Intron Variant |
| XRRA1 transcript variant 20 |
NM_001378173.1:c.322-2655… NM_001378173.1:c.322-2655G>T |
N/A | Intron Variant |
| XRRA1 transcript variant 4 | NM_001378157.1:c.1351G>T | V [GTT] > F [TTT] | Coding Sequence Variant |
| X-ray radiation resistance-associated protein 1 isoform 4 | NP_001365086.1:p.Val451Phe | V (Val) > F (Phe) | Missense Variant |
| XRRA1 transcript variant 2 | NM_001270380.3:c.1066G>T | V [GTT] > F [TTT] | Coding Sequence Variant |
| X-ray radiation resistance-associated protein 1 isoform 2 | NP_001257309.1:p.Val356Phe | V (Val) > F (Phe) | Missense Variant |
| XRRA1 transcript variant 9 | NM_001378162.1:c.367G>T | V [GTT] > F [TTT] | Coding Sequence Variant |
| X-ray radiation resistance-associated protein 1 isoform 9 | NP_001365091.1:p.Val123Phe | V (Val) > F (Phe) | Missense Variant |
| XRRA1 transcript variant 22 | NM_001378175.1:c.196G>T | V [GTT] > F [TTT] | Coding Sequence Variant |
| X-ray radiation resistance-associated protein 1 isoform 16 | NP_001365104.1:p.Val66Phe | V (Val) > F (Phe) | Missense Variant |
| XRRA1 transcript variant 1 | NM_182969.4:c.1327G>T | V [GTT] > F [TTT] | Coding Sequence Variant |
| X-ray radiation resistance-associated protein 1 isoform 1 | NP_892014.1:p.Val443Phe | V (Val) > F (Phe) | Missense Variant |
| XRRA1 transcript variant 13 | NM_001378166.1:c.196G>T | V [GTT] > F [TTT] | Coding Sequence Variant |
| X-ray radiation resistance-associated protein 1 isoform 11 | NP_001365095.1:p.Val66Phe | V (Val) > F (Phe) | Missense Variant |
| XRRA1 transcript variant 5 | NM_001378158.1:c.1306G>T | V [GTT] > F [TTT] | Coding Sequence Variant |
| X-ray radiation resistance-associated protein 1 isoform 5 | NP_001365087.1:p.Val436Phe | V (Val) > F (Phe) | Missense Variant |
| XRRA1 transcript variant 14 | NM_001378167.1:c.196G>T | V [GTT] > F [TTT] | Coding Sequence Variant |
| X-ray radiation resistance-associated protein 1 isoform 11 | NP_001365096.1:p.Val66Phe | V (Val) > F (Phe) | Missense Variant |
| XRRA1 transcript variant 21 | NM_001378174.1:c.196G>T | V [GTT] > F [TTT] | Coding Sequence Variant |
| X-ray radiation resistance-associated protein 1 isoform 16 | NP_001365103.1:p.Val66Phe | V (Val) > F (Phe) | Missense Variant |
| XRRA1 transcript variant 16 | NM_001378169.1:c.151G>T | V [GTT] > F [TTT] | Coding Sequence Variant |
| X-ray radiation resistance-associated protein 1 isoform 13 | NP_001365098.1:p.Val51Phe | V (Val) > F (Phe) | Missense Variant |
| XRRA1 transcript variant 8 | NM_001378161.1:c.457G>T | V [GTT] > F [TTT] | Coding Sequence Variant |
| X-ray radiation resistance-associated protein 1 isoform 8 | NP_001365090.1:p.Val153Phe | V (Val) > F (Phe) | Missense Variant |
| XRRA1 transcript variant 17 | NM_001378170.1:c.367G>T | V [GTT] > F [TTT] | Coding Sequence Variant |
| X-ray radiation resistance-associated protein 1 isoform 14 | NP_001365099.1:p.Val123Phe | V (Val) > F (Phe) | Missense Variant |
| XRRA1 transcript variant 3 | NM_001270381.3:c.502G>T | V [GTT] > F [TTT] | Coding Sequence Variant |
| X-ray radiation resistance-associated protein 1 isoform 3 | NP_001257310.1:p.Val168Phe | V (Val) > F (Phe) | Missense Variant |
| XRRA1 transcript variant 12 | NM_001378165.1:c.196G>T | V [GTT] > F [TTT] | Coding Sequence Variant |
| X-ray radiation resistance-associated protein 1 isoform 11 | NP_001365094.1:p.Val66Phe | V (Val) > F (Phe) | Missense Variant |
| XRRA1 transcript variant 23 | NM_001378176.1:c.196G>T | V [GTT] > F [TTT] | Coding Sequence Variant |
| X-ray radiation resistance-associated protein 1 isoform 16 | NP_001365105.1:p.Val66Phe | V (Val) > F (Phe) | Missense Variant |
| XRRA1 transcript variant 15 | NM_001378168.1:c.502G>T | V [GTT] > F [TTT] | Coding Sequence Variant |
| X-ray radiation resistance-associated protein 1 isoform 12 | NP_001365097.1:p.Val168Phe | V (Val) > F (Phe) | Missense Variant |
| XRRA1 transcript variant 18 | NM_001378171.1:c.367G>T | V [GTT] > F [TTT] | Coding Sequence Variant |
| X-ray radiation resistance-associated protein 1 isoform 14 | NP_001365100.1:p.Val123Phe | V (Val) > F (Phe) | Missense Variant |
| XRRA1 transcript variant 26 | NR_165436.1:n.1036G>T | N/A | Non Coding Transcript Variant |
| XRRA1 transcript variant 25 | NR_165435.1:n.1104G>T | N/A | Non Coding Transcript Variant |
| XRRA1 transcript variant 27 | NR_165437.1:n.756G>T | N/A | Non Coding Transcript Variant |
| XRRA1 transcript variant 24 | NR_165434.1:n. | N/A | Intron Variant |
| XRRA1 transcript variant 28 | NR_165438.1:n. | N/A | Intron Variant |
| XRRA1 transcript variant 29 | NR_165439.1:n. | N/A | Intron Variant |
| XRRA1 transcript variant X6 |
XM_017017221.2:c.1171-265… XM_017017221.2:c.1171-2655G>T |
N/A | Intron Variant |
| XRRA1 transcript variant X11 |
XM_047426383.1:c.1000-265… XM_047426383.1:c.1000-2655G>T |
N/A | Intron Variant |
| XRRA1 transcript variant X23 |
XM_047426391.1:c.448-2655… XM_047426391.1:c.448-2655G>T |
N/A | Intron Variant |
| XRRA1 transcript variant X28 |
XM_047426395.1:c.322-2655… XM_047426395.1:c.322-2655G>T |
N/A | Intron Variant |
| XRRA1 transcript variant X29 |
XM_047426396.1:c.322-2655… XM_047426396.1:c.322-2655G>T |
N/A | Intron Variant |
| XRRA1 transcript variant X34 |
XM_047426402.1:c.322-2655… XM_047426402.1:c.322-2655G>T |
N/A | Intron Variant |
| XRRA1 transcript variant X36 |
XM_047426404.1:c.322-2655… XM_047426404.1:c.322-2655G>T |
N/A | Intron Variant |
| XRRA1 transcript variant X40 |
XM_047426408.1:c.322-2655… XM_047426408.1:c.322-2655G>T |
N/A | Intron Variant |
| XRRA1 transcript variant X1 | XM_011544755.2:c.1306G>T | V [GTT] > F [TTT] | Coding Sequence Variant |
| X-ray radiation resistance-associated protein 1 isoform X1 | XP_011543057.1:p.Val436Phe | V (Val) > F (Phe) | Missense Variant |
| XRRA1 transcript variant X2 | XM_011544756.2:c.1225G>T | V [GTT] > F [TTT] | Coding Sequence Variant |
| X-ray radiation resistance-associated protein 1 isoform X2 | XP_011543058.1:p.Val409Phe | V (Val) > F (Phe) | Missense Variant |
| XRRA1 transcript variant X3 | XM_011544757.2:c.1180G>T | V [GTT] > F [TTT] | Coding Sequence Variant |
| X-ray radiation resistance-associated protein 1 isoform X3 | XP_011543059.1:p.Val394Phe | V (Val) > F (Phe) | Missense Variant |
| XRRA1 transcript variant X4 | XM_011544758.2:c.1180G>T | V [GTT] > F [TTT] | Coding Sequence Variant |
| X-ray radiation resistance-associated protein 1 isoform X4 | XP_011543060.1:p.Val394Phe | V (Val) > F (Phe) | Missense Variant |
| XRRA1 transcript variant X5 | XM_011544759.2:c.1156G>T | V [GTT] > F [TTT] | Coding Sequence Variant |
| X-ray radiation resistance-associated protein 1 isoform X5 | XP_011543061.1:p.Val386Phe | V (Val) > F (Phe) | Missense Variant |
| XRRA1 transcript variant X7 | XM_011544761.2:c.1108G>T | V [GTT] > F [TTT] | Coding Sequence Variant |
| X-ray radiation resistance-associated protein 1 isoform X7 | XP_011543063.1:p.Val370Phe | V (Val) > F (Phe) | Missense Variant |
| XRRA1 transcript variant X8 | XM_011544762.2:c.1090G>T | V [GTT] > F [TTT] | Coding Sequence Variant |
| X-ray radiation resistance-associated protein 1 isoform X8 | XP_011543064.1:p.Val364Phe | V (Val) > F (Phe) | Missense Variant |
| XRRA1 transcript variant X9 | XM_047426382.1:c.1066G>T | V [GTT] > F [TTT] | Coding Sequence Variant |
| X-ray radiation resistance-associated protein 1 isoform X9 | XP_047282338.1:p.Val356Phe | V (Val) > F (Phe) | Missense Variant |
| XRRA1 transcript variant X10 | XM_011544763.3:c.1351G>T | V [GTT] > F [TTT] | Coding Sequence Variant |
| X-ray radiation resistance-associated protein 1 isoform X10 | XP_011543065.1:p.Val451Phe | V (Val) > F (Phe) | Missense Variant |
| XRRA1 transcript variant X12 | XM_047426384.1:c.919G>T | V [GTT] > F [TTT] | Coding Sequence Variant |
| X-ray radiation resistance-associated protein 1 isoform X12 | XP_047282340.1:p.Val307Phe | V (Val) > F (Phe) | Missense Variant |
| XRRA1 transcript variant X13 | XM_005273770.3:c.628G>T | V [GTT] > F [TTT] | Coding Sequence Variant |
| X-ray radiation resistance-associated protein 1 isoform X13 | XP_005273827.1:p.Val210Phe | V (Val) > F (Phe) | Missense Variant |
| XRRA1 transcript variant X14 | XM_017017222.3:c.1225G>T | V [GTT] > F [TTT] | Coding Sequence Variant |
| X-ray radiation resistance-associated protein 1 isoform X14 | XP_016872711.1:p.Val409Phe | V (Val) > F (Phe) | Missense Variant |
| XRRA1 transcript variant X15 | XM_011544765.2:c.628G>T | V [GTT] > F [TTT] | Coding Sequence Variant |
| X-ray radiation resistance-associated protein 1 isoform X13 | XP_011543067.1:p.Val210Phe | V (Val) > F (Phe) | Missense Variant |
| XRRA1 transcript variant X16 | XM_047426385.1:c.862G>T | V [GTT] > F [TTT] | Coding Sequence Variant |
| X-ray radiation resistance-associated protein 1 isoform X15 | XP_047282341.1:p.Val288Phe | V (Val) > F (Phe) | Missense Variant |
| XRRA1 transcript variant X17 | XM_047426386.1:c.1180G>T | V [GTT] > F [TTT] | Coding Sequence Variant |
| X-ray radiation resistance-associated protein 1 isoform X16 | XP_047282342.1:p.Val394Phe | V (Val) > F (Phe) | Missense Variant |
| XRRA1 transcript variant X18 | XM_047426387.1:c.847G>T | V [GTT] > F [TTT] | Coding Sequence Variant |
| X-ray radiation resistance-associated protein 1 isoform X17 | XP_047282343.1:p.Val283Phe | V (Val) > F (Phe) | Missense Variant |
| XRRA1 transcript variant X19 | XM_017017224.3:c.1090G>T | V [GTT] > F [TTT] | Coding Sequence Variant |
| X-ray radiation resistance-associated protein 1 isoform X18 | XP_016872713.1:p.Val364Phe | V (Val) > F (Phe) | Missense Variant |
| XRRA1 transcript variant X20 | XM_047426388.1:c.628G>T | V [GTT] > F [TTT] | Coding Sequence Variant |
| X-ray radiation resistance-associated protein 1 isoform X13 | XP_047282344.1:p.Val210Phe | V (Val) > F (Phe) | Missense Variant |
| XRRA1 transcript variant X21 | XM_047426389.1:c.736G>T | V [GTT] > F [TTT] | Coding Sequence Variant |
| X-ray radiation resistance-associated protein 1 isoform X19 | XP_047282345.1:p.Val246Phe | V (Val) > F (Phe) | Missense Variant |
| XRRA1 transcript variant X22 | XM_047426390.1:c.1054G>T | V [GTT] > F [TTT] | Coding Sequence Variant |
| X-ray radiation resistance-associated protein 1 isoform X20 | XP_047282346.1:p.Val352Phe | V (Val) > F (Phe) | Missense Variant |
| XRRA1 transcript variant X24 | XM_047426392.1:c.628G>T | V [GTT] > F [TTT] | Coding Sequence Variant |
| X-ray radiation resistance-associated protein 1 isoform X13 | XP_047282348.1:p.Val210Phe | V (Val) > F (Phe) | Missense Variant |
| XRRA1 transcript variant X25 | XM_047426393.1:c.367G>T | V [GTT] > F [TTT] | Coding Sequence Variant |
| X-ray radiation resistance-associated protein 1 isoform X22 | XP_047282349.1:p.Val123Phe | V (Val) > F (Phe) | Missense Variant |
| XRRA1 transcript variant X26 | XM_047426394.1:c.502G>T | V [GTT] > F [TTT] | Coding Sequence Variant |
| X-ray radiation resistance-associated protein 1 isoform X23 | XP_047282350.1:p.Val168Phe | V (Val) > F (Phe) | Missense Variant |
| XRRA1 transcript variant X27 | XM_017017228.3:c.628G>T | V [GTT] > F [TTT] | Coding Sequence Variant |
| X-ray radiation resistance-associated protein 1 isoform X24 | XP_016872717.1:p.Val210Phe | V (Val) > F (Phe) | Missense Variant |
| XRRA1 transcript variant X30 | XM_047426397.1:c.502G>T | V [GTT] > F [TTT] | Coding Sequence Variant |
| X-ray radiation resistance-associated protein 1 isoform X23 | XP_047282353.1:p.Val168Phe | V (Val) > F (Phe) | Missense Variant |
| XRRA1 transcript variant X31 | XM_047426399.1:c.367G>T | V [GTT] > F [TTT] | Coding Sequence Variant |
| X-ray radiation resistance-associated protein 1 isoform X22 | XP_047282355.1:p.Val123Phe | V (Val) > F (Phe) | Missense Variant |
| XRRA1 transcript variant X32 | XM_047426400.1:c.502G>T | V [GTT] > F [TTT] | Coding Sequence Variant |
| X-ray radiation resistance-associated protein 1 isoform X26 | XP_047282356.1:p.Val168Phe | V (Val) > F (Phe) | Missense Variant |
| XRRA1 transcript variant X33 | XM_047426401.1:c.367G>T | V [GTT] > F [TTT] | Coding Sequence Variant |
| X-ray radiation resistance-associated protein 1 isoform X22 | XP_047282357.1:p.Val123Phe | V (Val) > F (Phe) | Missense Variant |
| XRRA1 transcript variant X35 | XM_047426403.1:c.391G>T | V [GTT] > F [TTT] | Coding Sequence Variant |
| X-ray radiation resistance-associated protein 1 isoform X27 | XP_047282359.1:p.Val131Phe | V (Val) > F (Phe) | Missense Variant |
| XRRA1 transcript variant X37 | XM_047426405.1:c.502G>T | V [GTT] > F [TTT] | Coding Sequence Variant |
| X-ray radiation resistance-associated protein 1 isoform X26 | XP_047282361.1:p.Val168Phe | V (Val) > F (Phe) | Missense Variant |
| XRRA1 transcript variant X38 | XM_047426406.1:c.367G>T | V [GTT] > F [TTT] | Coding Sequence Variant |
| X-ray radiation resistance-associated protein 1 isoform X28 | XP_047282362.1:p.Val123Phe | V (Val) > F (Phe) | Missense Variant |
| XRRA1 transcript variant X39 | XM_047426407.1:c.367G>T | V [GTT] > F [TTT] | Coding Sequence Variant |
| X-ray radiation resistance-associated protein 1 isoform X28 | XP_047282363.1:p.Val123Phe | V (Val) > F (Phe) | 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 11 | NC_000011.10:g.74851117= | NC_000011.10:g.74851117C>A |
| GRCh37.p13 chr 11 | NC_000011.9:g.74562162= | NC_000011.9:g.74562162C>A |
| XRRA1 transcript variant 1 | NM_182969.4:c.1327= | NM_182969.4:c.1327G>T |
| XRRA1 transcript variant 1 | NM_182969.3:c.1327= | NM_182969.3:c.1327G>T |
| XRRA1 transcript variant 1 | NM_182969.2:c.1327= | NM_182969.2:c.1327G>T |
| XRRA1 transcript variant X10 | XM_011544763.3:c.1351= | XM_011544763.3:c.1351G>T |
| XRRA1 transcript variant X11 | XM_011544763.2:c.1351= | XM_011544763.2:c.1351G>T |
| XRRA1 transcript variant X11 | XM_011544763.1:c.1351= | XM_011544763.1:c.1351G>T |
| XRRA1 transcript variant X13 | XM_005273770.3:c.628= | XM_005273770.3:c.628G>T |
| XRRA1 transcript variant X13 | XM_005273770.2:c.628= | XM_005273770.2:c.628G>T |
| XRRA1 transcript variant X6 | XM_005273770.1:c.628= | XM_005273770.1:c.628G>T |
| XRRA1 transcript variant X14 | XM_017017222.3:c.1225= | XM_017017222.3:c.1225G>T |
| XRRA1 transcript variant X15 | XM_017017222.2:c.1225= | XM_017017222.2:c.1225G>T |
| XRRA1 transcript variant X15 | XM_017017222.1:c.1225= | XM_017017222.1:c.1225G>T |
| XRRA1 transcript variant X27 | XM_017017228.3:c.628= | XM_017017228.3:c.628G>T |
| XRRA1 transcript variant X24 | XM_017017228.2:c.628= | XM_017017228.2:c.628G>T |
| XRRA1 transcript variant X24 | XM_017017228.1:c.628= | XM_017017228.1:c.628G>T |
| XRRA1 transcript variant 3 | NM_001270381.3:c.502= | NM_001270381.3:c.502G>T |
| XRRA1 transcript variant 3 | NM_001270381.2:c.502= | NM_001270381.2:c.502G>T |
| XRRA1 transcript variant 3 | NM_001270381.1:c.502= | NM_001270381.1:c.502G>T |
| XRRA1 transcript variant X19 | XM_017017224.3:c.1090= | XM_017017224.3:c.1090G>T |
| XRRA1 transcript variant X20 | XM_017017224.2:c.1090= | XM_017017224.2:c.1090G>T |
| XRRA1 transcript variant X20 | XM_017017224.1:c.1090= | XM_017017224.1:c.1090G>T |
| XRRA1 transcript variant 2 | NM_001270380.3:c.1066= | NM_001270380.3:c.1066G>T |
| XRRA1 transcript variant 2 | NM_001270380.2:c.1066= | NM_001270380.2:c.1066G>T |
| XRRA1 transcript variant 2 | NM_001270380.1:c.1066= | NM_001270380.1:c.1066G>T |
| XRRA1 transcript variant X1 | XM_011544755.2:c.1306= | XM_011544755.2:c.1306G>T |
| XRRA1 transcript variant X2 | XM_011544755.1:c.1306= | XM_011544755.1:c.1306G>T |
| XRRA1 transcript variant X2 | XM_011544756.2:c.1225= | XM_011544756.2:c.1225G>T |
| XRRA1 transcript variant X3 | XM_011544756.1:c.1225= | XM_011544756.1:c.1225G>T |
| XRRA1 transcript variant X4 | XM_011544758.2:c.1180= | XM_011544758.2:c.1180G>T |
| XRRA1 transcript variant X5 | XM_011544758.1:c.1180= | XM_011544758.1:c.1180G>T |
| XRRA1 transcript variant X3 | XM_011544757.2:c.1180= | XM_011544757.2:c.1180G>T |
| XRRA1 transcript variant X4 | XM_011544757.1:c.1180= | XM_011544757.1:c.1180G>T |
| XRRA1 transcript variant X15 | XM_011544765.2:c.628= | XM_011544765.2:c.628G>T |
| XRRA1 transcript variant X14 | XM_011544765.1:c.628= | XM_011544765.1:c.628G>T |
| XRRA1 transcript variant X5 | XM_011544759.2:c.1156= | XM_011544759.2:c.1156G>T |
| XRRA1 transcript variant X6 | XM_011544759.1:c.1156= | XM_011544759.1:c.1156G>T |
| XRRA1 transcript variant X7 | XM_011544761.2:c.1108= | XM_011544761.2:c.1108G>T |
| XRRA1 transcript variant X9 | XM_011544761.1:c.1108= | XM_011544761.1:c.1108G>T |
| XRRA1 transcript variant X8 | XM_011544762.2:c.1090= | XM_011544762.2:c.1090G>T |
| XRRA1 transcript variant X10 | XM_011544762.1:c.1090= | XM_011544762.1:c.1090G>T |
| XRRA1 transcript variant 4 | NM_001378157.1:c.1351= | NM_001378157.1:c.1351G>T |
| XRRA1 transcript variant 5 | NM_001378158.1:c.1306= | NM_001378158.1:c.1306G>T |
| XRRA1 transcript variant X30 | XM_047426397.1:c.502= | XM_047426397.1:c.502G>T |
| XRRA1 transcript variant 12 | NM_001378165.1:c.196= | NM_001378165.1:c.196G>T |
| XRRA1 transcript variant 8 | NM_001378161.1:c.457= | NM_001378161.1:c.457G>T |
| XRRA1 transcript variant X17 | XM_047426386.1:c.1180= | XM_047426386.1:c.1180G>T |
| XRRA1 transcript variant X9 | XM_047426382.1:c.1066= | XM_047426382.1:c.1066G>T |
| XRRA1 transcript variant 13 | NM_001378166.1:c.196= | NM_001378166.1:c.196G>T |
| XRRA1 transcript variant X20 | XM_047426388.1:c.628= | XM_047426388.1:c.628G>T |
| XRRA1 transcript variant 9 | NM_001378162.1:c.367= | NM_001378162.1:c.367G>T |
| XRRA1 transcript variant 21 | NM_001378174.1:c.196= | NM_001378174.1:c.196G>T |
| XRRA1 transcript variant X32 | XM_047426400.1:c.502= | XM_047426400.1:c.502G>T |
| XRRA1 transcript variant X22 | XM_047426390.1:c.1054= | XM_047426390.1:c.1054G>T |
| XRRA1 transcript variant 16 | NM_001378169.1:c.151= | NM_001378169.1:c.151G>T |
| XRRA1 transcript variant X24 | XM_047426392.1:c.628= | XM_047426392.1:c.628G>T |
| XRRA1 transcript variant X25 | XM_047426393.1:c.367= | XM_047426393.1:c.367G>T |
| XRRA1 transcript variant X12 | XM_047426384.1:c.919= | XM_047426384.1:c.919G>T |
| XRRA1 transcript variant X26 | XM_047426394.1:c.502= | XM_047426394.1:c.502G>T |
| XRRA1 transcript variant 17 | NM_001378170.1:c.367= | NM_001378170.1:c.367G>T |
| XRRA1 transcript variant 22 | NM_001378175.1:c.196= | NM_001378175.1:c.196G>T |
| XRRA1 transcript variant X18 | XM_047426387.1:c.847= | XM_047426387.1:c.847G>T |
| XRRA1 transcript variant 23 | NM_001378176.1:c.196= | NM_001378176.1:c.196G>T |
| XRRA1 transcript variant X16 | XM_047426385.1:c.862= | XM_047426385.1:c.862G>T |
| XRRA1 transcript variant X37 | XM_047426405.1:c.502= | XM_047426405.1:c.502G>T |
| XRRA1 transcript variant 14 | NM_001378167.1:c.196= | NM_001378167.1:c.196G>T |
| XRRA1 transcript variant 25 | NR_165435.1:n.1104= | NR_165435.1:n.1104G>T |
| XRRA1 transcript variant X31 | XM_047426399.1:c.367= | XM_047426399.1:c.367G>T |
| XRRA1 transcript variant 26 | NR_165436.1:n.1036= | NR_165436.1:n.1036G>T |
| XRRA1 transcript variant X33 | XM_047426401.1:c.367= | XM_047426401.1:c.367G>T |
| XRRA1 transcript variant X21 | XM_047426389.1:c.736= | XM_047426389.1:c.736G>T |
| XRRA1 transcript variant X38 | XM_047426406.1:c.367= | XM_047426406.1:c.367G>T |
| XRRA1 transcript variant 15 | NM_001378168.1:c.502= | NM_001378168.1:c.502G>T |
| XRRA1 transcript variant X39 | XM_047426407.1:c.367= | XM_047426407.1:c.367G>T |
| XRRA1 transcript variant 27 | NR_165437.1:n.756= | NR_165437.1:n.756G>T |
| XRRA1 transcript variant 18 | NM_001378171.1:c.367= | NM_001378171.1:c.367G>T |
| XRRA1 transcript variant X35 | XM_047426403.1:c.391= | XM_047426403.1:c.391G>T |
| X-ray radiation resistance-associated protein 1 isoform 1 | NP_892014.1:p.Val443= | NP_892014.1:p.Val443Phe |
| X-ray radiation resistance-associated protein 1 isoform X10 | XP_011543065.1:p.Val451= | XP_011543065.1:p.Val451Phe |
| X-ray radiation resistance-associated protein 1 isoform X13 | XP_005273827.1:p.Val210= | XP_005273827.1:p.Val210Phe |
| X-ray radiation resistance-associated protein 1 isoform X14 | XP_016872711.1:p.Val409= | XP_016872711.1:p.Val409Phe |
| X-ray radiation resistance-associated protein 1 isoform X24 | XP_016872717.1:p.Val210= | XP_016872717.1:p.Val210Phe |
| X-ray radiation resistance-associated protein 1 isoform 3 | NP_001257310.1:p.Val168= | NP_001257310.1:p.Val168Phe |
| X-ray radiation resistance-associated protein 1 isoform X18 | XP_016872713.1:p.Val364= | XP_016872713.1:p.Val364Phe |
| X-ray radiation resistance-associated protein 1 isoform 2 | NP_001257309.1:p.Val356= | NP_001257309.1:p.Val356Phe |
| X-ray radiation resistance-associated protein 1 isoform X1 | XP_011543057.1:p.Val436= | XP_011543057.1:p.Val436Phe |
| X-ray radiation resistance-associated protein 1 isoform X2 | XP_011543058.1:p.Val409= | XP_011543058.1:p.Val409Phe |
| X-ray radiation resistance-associated protein 1 isoform X4 | XP_011543060.1:p.Val394= | XP_011543060.1:p.Val394Phe |
| X-ray radiation resistance-associated protein 1 isoform X3 | XP_011543059.1:p.Val394= | XP_011543059.1:p.Val394Phe |
| X-ray radiation resistance-associated protein 1 isoform X13 | XP_011543067.1:p.Val210= | XP_011543067.1:p.Val210Phe |
| X-ray radiation resistance-associated protein 1 isoform X5 | XP_011543061.1:p.Val386= | XP_011543061.1:p.Val386Phe |
| X-ray radiation resistance-associated protein 1 isoform X7 | XP_011543063.1:p.Val370= | XP_011543063.1:p.Val370Phe |
| X-ray radiation resistance-associated protein 1 isoform X8 | XP_011543064.1:p.Val364= | XP_011543064.1:p.Val364Phe |
| X-ray radiation resistance-associated protein 1 isoform 4 | NP_001365086.1:p.Val451= | NP_001365086.1:p.Val451Phe |
| X-ray radiation resistance-associated protein 1 isoform 5 | NP_001365087.1:p.Val436= | NP_001365087.1:p.Val436Phe |
| X-ray radiation resistance-associated protein 1 isoform X23 | XP_047282353.1:p.Val168= | XP_047282353.1:p.Val168Phe |
| X-ray radiation resistance-associated protein 1 isoform 11 | NP_001365094.1:p.Val66= | NP_001365094.1:p.Val66Phe |
| X-ray radiation resistance-associated protein 1 isoform 8 | NP_001365090.1:p.Val153= | NP_001365090.1:p.Val153Phe |
| X-ray radiation resistance-associated protein 1 isoform X16 | XP_047282342.1:p.Val394= | XP_047282342.1:p.Val394Phe |
| X-ray radiation resistance-associated protein 1 isoform X9 | XP_047282338.1:p.Val356= | XP_047282338.1:p.Val356Phe |
| X-ray radiation resistance-associated protein 1 isoform 11 | NP_001365095.1:p.Val66= | NP_001365095.1:p.Val66Phe |
| X-ray radiation resistance-associated protein 1 isoform X13 | XP_047282344.1:p.Val210= | XP_047282344.1:p.Val210Phe |
| X-ray radiation resistance-associated protein 1 isoform 9 | NP_001365091.1:p.Val123= | NP_001365091.1:p.Val123Phe |
| X-ray radiation resistance-associated protein 1 isoform 16 | NP_001365103.1:p.Val66= | NP_001365103.1:p.Val66Phe |
| X-ray radiation resistance-associated protein 1 isoform X26 | XP_047282356.1:p.Val168= | XP_047282356.1:p.Val168Phe |
| X-ray radiation resistance-associated protein 1 isoform X20 | XP_047282346.1:p.Val352= | XP_047282346.1:p.Val352Phe |
| X-ray radiation resistance-associated protein 1 isoform 13 | NP_001365098.1:p.Val51= | NP_001365098.1:p.Val51Phe |
| X-ray radiation resistance-associated protein 1 isoform X13 | XP_047282348.1:p.Val210= | XP_047282348.1:p.Val210Phe |
| X-ray radiation resistance-associated protein 1 isoform X22 | XP_047282349.1:p.Val123= | XP_047282349.1:p.Val123Phe |
| X-ray radiation resistance-associated protein 1 isoform X12 | XP_047282340.1:p.Val307= | XP_047282340.1:p.Val307Phe |
| X-ray radiation resistance-associated protein 1 isoform X23 | XP_047282350.1:p.Val168= | XP_047282350.1:p.Val168Phe |
| X-ray radiation resistance-associated protein 1 isoform 14 | NP_001365099.1:p.Val123= | NP_001365099.1:p.Val123Phe |
| X-ray radiation resistance-associated protein 1 isoform 16 | NP_001365104.1:p.Val66= | NP_001365104.1:p.Val66Phe |
| X-ray radiation resistance-associated protein 1 isoform X17 | XP_047282343.1:p.Val283= | XP_047282343.1:p.Val283Phe |
| X-ray radiation resistance-associated protein 1 isoform 16 | NP_001365105.1:p.Val66= | NP_001365105.1:p.Val66Phe |
| X-ray radiation resistance-associated protein 1 isoform X15 | XP_047282341.1:p.Val288= | XP_047282341.1:p.Val288Phe |
| X-ray radiation resistance-associated protein 1 isoform X26 | XP_047282361.1:p.Val168= | XP_047282361.1:p.Val168Phe |
| X-ray radiation resistance-associated protein 1 isoform 11 | NP_001365096.1:p.Val66= | NP_001365096.1:p.Val66Phe |
| X-ray radiation resistance-associated protein 1 isoform X22 | XP_047282355.1:p.Val123= | XP_047282355.1:p.Val123Phe |
| X-ray radiation resistance-associated protein 1 isoform X22 | XP_047282357.1:p.Val123= | XP_047282357.1:p.Val123Phe |
| X-ray radiation resistance-associated protein 1 isoform X19 | XP_047282345.1:p.Val246= | XP_047282345.1:p.Val246Phe |
| X-ray radiation resistance-associated protein 1 isoform X28 | XP_047282362.1:p.Val123= | XP_047282362.1:p.Val123Phe |
| X-ray radiation resistance-associated protein 1 isoform 12 | NP_001365097.1:p.Val168= | NP_001365097.1:p.Val168Phe |
| X-ray radiation resistance-associated protein 1 isoform X28 | XP_047282363.1:p.Val123= | XP_047282363.1:p.Val123Phe |
| X-ray radiation resistance-associated protein 1 isoform 14 | NP_001365100.1:p.Val123= | NP_001365100.1:p.Val123Phe |
| X-ray radiation resistance-associated protein 1 isoform X27 | XP_047282359.1:p.Val131= | XP_047282359.1:p.Val131Phe |
| XRRA1 transcript variant 6 | NM_001378159.1:c.1045-2655= | NM_001378159.1:c.1045-2655G>T |
| XRRA1 transcript variant 7 | NM_001378160.1:c.1045-2655= | NM_001378160.1:c.1045-2655G>T |
| XRRA1 transcript variant 10 | NM_001378163.1:c.322-2655= | NM_001378163.1:c.322-2655G>T |
| XRRA1 transcript variant 11 | NM_001378164.1:c.322-2655= | NM_001378164.1:c.322-2655G>T |
| XRRA1 transcript variant 19 | NM_001378172.1:c.322-2655= | NM_001378172.1:c.322-2655G>T |
| XRRA1 transcript variant 20 | NM_001378173.1:c.322-2655= | NM_001378173.1:c.322-2655G>T |
| XRRA1 transcript variant X5 | XM_005273769.1:c.1045-2655= | XM_005273769.1:c.1045-2655G>T |
| XRRA1 transcript variant X6 | XM_017017221.2:c.1171-2655= | XM_017017221.2:c.1171-2655G>T |
| XRRA1 transcript variant X11 | XM_047426383.1:c.1000-2655= | XM_047426383.1:c.1000-2655G>T |
| XRRA1 transcript variant X23 | XM_047426391.1:c.448-2655= | XM_047426391.1:c.448-2655G>T |
| XRRA1 transcript variant X28 | XM_047426395.1:c.322-2655= | XM_047426395.1:c.322-2655G>T |
| XRRA1 transcript variant X29 | XM_047426396.1:c.322-2655= | XM_047426396.1:c.322-2655G>T |
| XRRA1 transcript variant X34 | XM_047426402.1:c.322-2655= | XM_047426402.1:c.322-2655G>T |
| XRRA1 transcript variant X36 | XM_047426404.1:c.322-2655= | XM_047426404.1:c.322-2655G>T |
| XRRA1 transcript variant X40 | XM_047426408.1:c.322-2655= | XM_047426408.1:c.322-2655G>T |
Help
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 | ss2739251398 | Nov 08, 2017 (151) |
| 2 | gnomAD - Exomes | NC_000011.9 - 74562162 | Jul 13, 2019 (153) |
| 3 | ALFA | NC_000011.10 - 74851117 | Apr 26, 2021 (155) |
Help
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).
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
No publications for rs1479396976
Help
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.