Linked Data
ClinVar Variation Id:
43920
ClinVar RCV Id:
RCV000036890
RCV000228537
RCV000624002
RCV000617742
RCV000678697
RCV000766340
RCV000769764
RCV001101122
RCV002482983
dbSNP Id:
rs146164600
ExAC:
1:236917337 G / A
gnomAD v2:
1-236917337-G-A
gnomAD v3:
1-236754037-G-A
gnomAD v4:
1-236754037-G-A
COSMIC:
COSM4029856
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236754037G>A , CM000663.2:g.236754037G>A | GRCh38 |
| NC_000001.10:g.236917337G>A , CM000663.1:g.236917337G>A | GRCh37 |
| NC_000001.9:g.234983960G>A | NCBI36 |
| NG_009081.1:g.72568G>A | |
| NG_009081.2:g.94897G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000542672.7:c.1930G>A | ENSP00000443495.1:p.Ala644Thr | |
| ENST00000461367.2:n.226G>A | ||
| ENST00000492634.7:n.1860G>A | ||
| ENST00000682015.1:c.1837G>A | ENSP00000506961.1:p.Ala613Thr | |
| ENST00000682692.1:n.3025G>A | ||
| ENST00000682966.1:n.7571G>A | ||
| ENST00000683111.1:c.*1216G>A | ENSP00000507913.1:n.*1216G>A | |
| ENST00000683322.1:n.3282G>A | ||
| ENST00000684050.1:n.4568G>A | ||
| ENST00000684286.1:n.3485G>A | ||
| ENST00000684502.1:n.3227G>A | ||
| ENST00000684763.1:n.545G>A | ||
| ENST00000366578.6:c.1930G>A MANE Select | ENSP00000355537.4:p.Ala644Thr | |
| ENST00000492634.6:n.1860G>A | ||
| ENST00000542672.6:c.1930G>A | ENSP00000443495.1:p.Ala644Thr | |
| ENST00000651091.1:c.1620G>A | ENSP00000498677.1:n.1620G>A | |
| ENST00000651275.1:c.1822G>A | ENSP00000498926.1:p.Ala608Thr | |
| ENST00000651781.1:c.1010G>A | ||
| ENST00000651786.1:c.*1302G>A | ENSP00000498364.1:n.*1302G>A | |
| ENST00000652096.1:c.*1335G>A | ENSP00000498896.1:n.*1335G>A | |
| ENST00000366578.5:c.1930G>A | ENSP00000355537.4:p.Ala644Thr | |
| ENST00000461367.1:n.139G>A | ||
| ENST00000542672.5:c.1930G>A | ENSP00000443495.1:p.Ala644Thr | |
| ENST00000546208.5:c.1306G>A | ENSP00000438384.2:p.Ala436Thr | |
| NM_001103.3:c.1930G>A | NP_001094.1:p.Ala644Thr | |
| NM_001278343.1:c.1930G>A | NP_001265272.1:p.Ala644Thr | |
| NM_001278344.1:c.1306G>A | NP_001265273.1:p.Ala436Thr | |
| NM_001278343.2:c.1930G>A | NP_001265272.1:p.Ala644Thr | |
| NM_001103.4:c.1930G>A MANE Select | NP_001094.1:p.Ala644Thr | |
| NM_001278344.2:c.1306G>A | NP_001265273.1:p.Ala436Thr |