Linked Data
ClinVar Variation Id:
2154348
ClinVar RCV Id:
RCV003081740
dbSNP Id:
rs1248950807
gnomAD v2:
3-135980891-A-G
gnomAD v3:
3-136262049-A-G
gnomAD v4:
3-136262049-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.136262049A>G , CM000665.2:g.136262049A>G | GRCh38 |
| NC_000003.11:g.135980891A>G , CM000665.1:g.135980891A>G | GRCh37 |
| NC_000003.10:g.137463581A>G | NCBI36 |
| NG_008939.1:g.16725A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251654.9:c.527A>G MANE Select | ENSP00000251654.4:p.Tyr176Cys | |
| ENST00000251654.8:c.527A>G | ENSP00000251654.4:p.Tyr176Cys | |
| ENST00000459873.1:c.278A>G | ENSP00000419293.1:p.Tyr93Cys | |
| ENST00000462542.5:c.394A>G | ||
| ENST00000462637.5:c.458A>G | ENSP00000420391.1:p.Tyr153Cys | |
| ENST00000465176.5:n.489A>G | ||
| ENST00000466072.5:c.527A>G | ENSP00000420158.1:p.Tyr176Cys | |
| ENST00000468777.5:c.620A>G | ENSP00000419129.1:p.Tyr207Cys | |
| ENST00000469217.5:c.587A>G | ENSP00000419027.1:p.Tyr196Cys | |
| ENST00000471595.5:c.527A>G | ENSP00000417549.1:p.Tyr176Cys | |
| ENST00000473073.1:n.484A>G | ||
| ENST00000474833.5:n.168+11491A>G | ||
| ENST00000475214.5:n.441A>G | ||
| ENST00000478469.5:c.527A>G | ENSP00000420759.1:p.Tyr176Cys | |
| ENST00000482086.5:c.179A>G | ENSP00000417253.1:p.Tyr60Cys | |
| ENST00000483687.5:c.470A>G | ENSP00000420639.1:p.Tyr157Cys | |
| ENST00000484181.5:c.527A>G | ENSP00000417937.1:p.Tyr176Cys | |
| ENST00000490504.5:c.372+5426A>G | ENSP00000418307.1:n.372+5426A>G | |
| NM_000532.4:c.527A>G | NP_000523.2:p.Tyr176Cys | |
| NM_001178014.1:c.587A>G | NP_001171485.1:p.Tyr196Cys | |
| XM_011512873.1:c.527A>G | XP_011511175.1:p.Tyr176Cys | |
| XM_011512873.2:c.527A>G | XP_011511175.1:p.Tyr176Cys | |
| NM_000532.5:c.527A>G MANE Select | NP_000523.2:p.Tyr176Cys | |
| NM_001178014.2:c.587A>G | NP_001171485.1:p.Tyr196Cys |