Linked Data
ClinVar Variation Id:
97117
dbSNP Id:
rs67486158
ExAC:
X:38226614 G / A
gnomAD v2:
X-38226614-G-A
gnomAD v3:
X-38367361-G-A
gnomAD v4:
X-38367361-G-A
COSMIC:
COSM4710488
PubMed:
PMID:9266388
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38367361G>A , CM000685.2:g.38367361G>A | GRCh38 |
| NC_000023.10:g.38226614G>A , CM000685.1:g.38226614G>A | GRCh37 |
| NC_000023.9:g.38111558G>A | NCBI36 |
| NG_008471.1:g.19879G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.148G>A MANE Select | ENSP00000039007.4:p.Gly50Arg | |
| ENST00000643344.1:c.148G>A | ENSP00000496606.1:p.Gly50Arg | |
| ENST00000039007.4:c.148G>A | ENSP00000039007.4:p.Gly50Arg | |
| ENST00000465127.1:c.172-298760G>A | ENSP00000417050.1:n.172-298760G>A | |
| ENST00000488812.1:n.240G>A | ||
| NM_000531.5:c.148G>A | NP_000522.3:p.Gly50Arg | |
| XM_017029556.1:c.148G>A | XP_016885045.1:p.Gly50Arg | |
| NM_000531.6:c.148G>A MANE Select | NP_000522.3:p.Gly50Arg |