Linked Data
dbSNP Id:
rs761995373
ExAC:
10:112361731 G / A
gnomAD v2:
10-112361731-G-A
gnomAD v3:
10-110601973-G-A
gnomAD v4:
10-110601973-G-A
COSMIC:
COSM914747
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110601973G>A , CM000672.2:g.110601973G>A | GRCh38 |
| NC_000010.10:g.112361731G>A , CM000672.1:g.112361731G>A | GRCh37 |
| NC_000010.9:g.112351721G>A | NCBI36 |
| NG_012217.1:g.39283G>A , LRG_774:g.39283G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.5133G>A | ||
| ENST00000685743.1:n.2608G>A | ||
| ENST00000686057.1:n.1251G>A | ||
| ENST00000689321.1:n.1863G>A | ||
| ENST00000689986.1:n.689G>A | ||
| ENST00000361804.5:c.2900G>A MANE Select | ENSP00000354720.5:p.Arg967Gln | |
| ENST00000361804.4:c.2900G>A | ENSP00000354720.4:p.Arg967Gln | |
| NM_005445.3:c.2900G>A , LRG_774t1:c.2900G>A | NP_005436.1:p.Arg967Gln | |
| NM_005445.4:c.2900G>A MANE Select | NP_005436.1:p.Arg967Gln |