Linked Data
ClinVar Variation Id:
566880
dbSNP Id:
rs761966457
ExAC:
X:99925824 G / A
gnomAD v2:
X-99925824-G-A
gnomAD v3:
X-100670827-G-A
gnomAD v4:
X-100670827-G-A
COSMIC:
COSM4877898
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.100670827G>A , CM000685.2:g.100670827G>A | GRCh38 |
| NC_000023.10:g.99925824G>A , CM000685.1:g.99925824G>A | GRCh37 |
| NC_000023.9:g.99812480G>A | NCBI36 |
| NG_021337.1:g.31662G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373004.5:c.1238G>A MANE Select | ENSP00000362095.3:p.Arg413His | |
| ENST00000638920.1:n.1241G>A | ||
| ENST00000640282.1:c.162G>A | ENSP00000491188.1:p.Ser54= | |
| ENST00000373004.3:c.1238G>A | ENSP00000362095.3:p.Arg413His | |
| NM_014467.2:c.1238G>A | NP_055282.1:p.Arg413His | |
| XM_005262121.2:c.1238G>A | XP_005262178.1:p.Arg413His | |
| NM_014467.3:c.1238G>A MANE Select | NP_055282.1:p.Arg413His |