Linked Data
ClinVar Variation Id:
3199243
ClinVar RCV Id:
RCV004487598
dbSNP Id:
rs766363930
ExAC:
17:38028580 G / A
gnomAD v2:
17-38028580-G-A
gnomAD v4:
17-39872327-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39872327G>A , CM000679.2:g.39872327G>A | GRCh38 |
| NC_000017.10:g.38028580G>A , CM000679.1:g.38028580G>A | GRCh37 |
| NC_000017.9:g.35282106G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348931.9:c.464G>A MANE Select | ENSP00000335384.5:p.Cys155Tyr | |
| ENST00000348931.8:c.464G>A | ENSP00000335384.5:p.Cys155Tyr | |
| ENST00000377940.3:c.398G>A | ENSP00000367174.3:p.Cys133Tyr | |
| ENST00000583811.5:c.110G>A | ENSP00000462463.1:p.Cys37Tyr | |
| ENST00000584588.5:c.406+702G>A | ENSP00000462067.1:n.406+702G>A | |
| NM_198844.2:c.398G>A | NP_942141.2:p.Cys133Tyr | |
| NM_199321.2:c.464G>A | NP_955353.1:p.Cys155Tyr | |
| XM_011524298.1:c.464G>A | XP_011522600.1:p.Cys155Tyr | |
| XR_002957959.1:n.655G>A | ||
| NM_198844.3:c.398G>A | NP_942141.2:p.Cys133Tyr | |
| NM_199321.3:c.464G>A MANE Select | NP_955353.1:p.Cys155Tyr |