Linked Data
ClinVar Variation Id:
2457219
ClinVar RCV Id:
RCV004254356
dbSNP Id:
rs201569525
ExAC:
X:153453493 A / C
gnomAD v2:
X-153453493-A-C
gnomAD v3:
X-154188004-A-C
gnomAD v4:
X-154188004-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154188004A>C , CM000685.2:g.154188004A>C | GRCh38 |
| NC_000023.10:g.153453493A>C , CM000685.1:g.153453493A>C | GRCh37 |
| NG_011606.1:g.10409A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000595290.6:c.347A>C MANE Select | ENSP00000472316.1:p.Tyr116Ser | |
| ENST00000595290.5:c.347A>C | ENSP00000472316.1:p.Tyr116Ser | |
| ENST00000595330.1:n.357A>C | ||
| NM_000513.2:c.347A>C MANE Select | NP_000504.1:p.Tyr116Ser |