Linked Data
ClinVar Variation Id:
797973
ClinVar RCV Id:
RCV000981466
dbSNP Id:
rs768780694
ExAC:
3:183853239 G / A
gnomAD v2:
3-183853239-G-A
gnomAD v3:
3-184135451-G-A
gnomAD v4:
3-184135451-G-A
COSMIC:
COSM4680550
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184135451G>A , CM000665.2:g.184135451G>A | GRCh38 |
| NC_000003.11:g.183853239G>A , CM000665.1:g.183853239G>A | GRCh37 |
| NC_000003.10:g.185335933G>A | NCBI36 |
| NG_015826.1:g.5430G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432569.2:c.66G>A | ENSP00000414775.1:p.Ala22= | |
| ENST00000465218.3:n.89G>A | ||
| ENST00000468748.7:n.49G>A | ||
| ENST00000471832.2:c.66G>A | ENSP00000497786.1:p.Ala22= | |
| ENST00000492226.2:n.63G>A | ||
| ENST00000647636.1:c.66G>A | ENSP00000497505.1:p.Ala22= | |
| ENST00000647909.1:c.66G>A | ENSP00000498164.1:p.Ala22= | |
| ENST00000648256.1:c.15G>A | ENSP00000497356.1:p.Ala5= | |
| ENST00000648314.1:c.66G>A | ENSP00000496920.1:p.Ala22= | |
| ENST00000648599.1:c.66G>A | ENSP00000497159.1:p.Ala22= | |
| ENST00000648630.1:c.60G>A | ENSP00000497887.1:p.Ala20= | |
| ENST00000648682.1:c.66G>A | ENSP00000498185.1:p.Ala22= | |
| ENST00000648882.1:c.66G>A | ENSP00000497603.1:p.Ala22= | |
| ENST00000648890.1:c.66G>A | ENSP00000497503.1:p.Ala22= | |
| ENST00000648915.2:c.66G>A MANE Select | ENSP00000497160.1:p.Ala22= | |
| ENST00000649688.1:c.66G>A | ENSP00000497097.1:p.Ala22= | |
| ENST00000649814.1:n.115G>A | ||
| ENST00000273783.7:c.66G>A | ENSP00000273783.3:p.Ala22= | |
| ENST00000432569.1:c.66G>A | ENSP00000414775.1:p.Ala22= | |
| ENST00000432982.5:c.52G>A | ||
| ENST00000444495.1:c.66G>A | ENSP00000409142.1:p.Ala22= | |
| ENST00000481054.5:n.67G>A | ||
| ENST00000491144.5:n.414G>A | ||
| NM_003907.2:c.66G>A | NP_003898.2:p.Ala22= | |
| XR_924208.1:n.1017G>A | ||
| NM_003907.3:c.66G>A MANE Select | NP_003898.2:p.Ala22= | |
| XM_011513266.3:c.-836G>A | XP_011511568.1:n.-836G>A | |
| XR_001740352.2:n.429G>A | ||
| XR_001740353.2:n.429G>A | ||
| XR_924208.2:n.429G>A |