Linked Data
ClinVar Variation Id:
97274
dbSNP Id:
rs72558416
gnomAD v4:
X-38403699-G-A
COSMIC:
COSM1121088
PubMed:
PMID:9007316
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38403699G>A , CM000685.2:g.38403699G>A | GRCh38 |
| NC_000023.10:g.38262952G>A , CM000685.1:g.38262952G>A | GRCh37 |
| NC_000023.9:g.38147896G>A | NCBI36 |
| NG_008471.1:g.56217G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.622G>A MANE Select | ENSP00000039007.4:p.Ala208Thr | |
| ENST00000643344.1:c.*372G>A | ENSP00000496606.1:n.*372G>A | |
| ENST00000039007.4:c.622G>A | ENSP00000039007.4:p.Ala208Thr | |
| ENST00000465127.1:c.172-262422G>A | ENSP00000417050.1:n.172-262422G>A | |
| NM_000531.5:c.622G>A | NP_000522.3:p.Ala208Thr | |
| XM_017029556.1:c.622G>A | XP_016885045.1:p.Ala208Thr | |
| NM_000531.6:c.622G>A MANE Select | NP_000522.3:p.Ala208Thr |