Linked Data
dbSNP Id:
rs58973490
ExAC:
10:96535264 G / A
gnomAD v2:
10-96535264-G-A
gnomAD v3:
10-94775507-G-A
gnomAD v4:
10-94775507-G-A
COSMIC:
COSM3985824
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94775507G>A , CM000672.2:g.94775507G>A | GRCh38 |
| NC_000010.10:g.96535264G>A , CM000672.1:g.96535264G>A | GRCh37 |
| NC_000010.9:g.96525254G>A | NCBI36 |
| NG_008384.2:g.17802G>A | |
| NG_008384.3:g.17827G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.449G>A MANE Select | ENSP00000360372.3:p.Arg150His | |
| ENST00000645461.1:n.1502G>A | ||
| ENST00000371321.7:c.449G>A | ENSP00000360372.3:p.Arg150His | |
| ENST00000464755.1:c.1212G>A | ENSP00000483243.1:n.1212G>A | |
| ENST00000480405.2:c.449G>A | ENSP00000483847.1:p.Arg150His | |
| NM_000769.2:c.449G>A | NP_000760.1:p.Arg150His | |
| NM_000769.4:c.449G>A MANE Select | NP_000760.1:p.Arg150His |