Linked Data
ClinVar Variation Id:
225429
ClinVar RCV Id:
RCV000490483
dbSNP Id:
rs769521436
ExAC:
3:136046492 A / G
gnomAD v2:
3-136046492-A-G
gnomAD v3:
3-136327650-A-G
gnomAD v4:
3-136327650-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.136327650A>G , CM000665.2:g.136327650A>G | GRCh38 |
| NC_000003.11:g.136046492A>G , CM000665.1:g.136046492A>G | GRCh37 |
| NC_000003.10:g.137529182A>G | NCBI36 |
| NG_008939.1:g.82326A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251654.9:c.1316A>G MANE Select | ENSP00000251654.4:p.Tyr439Cys | |
| ENST00000251654.8:c.1316A>G | ENSP00000251654.4:p.Tyr439Cys | |
| ENST00000462637.5:c.1247A>G | ENSP00000420391.1:p.Tyr416Cys | |
| ENST00000466072.5:c.1376A>G | ENSP00000420158.1:p.Tyr459Cys | |
| ENST00000468777.5:c.1409A>G | ENSP00000419129.1:p.Tyr470Cys | |
| ENST00000469217.5:c.1376A>G | ENSP00000419027.1:p.Tyr459Cys | |
| ENST00000471595.5:c.1316A>G | ENSP00000417549.1:p.Tyr439Cys | |
| ENST00000473073.1:n.1517A>G | ||
| ENST00000474833.5:n.840A>G | ||
| ENST00000478469.5:c.885-6630A>G | ENSP00000420759.1:n.885-6630A>G | |
| ENST00000482086.5:c.968A>G | ENSP00000417253.1:p.Tyr323Cys | |
| ENST00000483687.5:c.1259A>G | ENSP00000420639.1:p.Tyr420Cys | |
| ENST00000484181.5:c.1215A>G | ENSP00000417937.1:p.Leu405= | |
| ENST00000490504.5:c.1145A>G | ENSP00000418307.1:p.Tyr382Cys | |
| NM_000532.4:c.1316A>G | NP_000523.2:p.Tyr439Cys | |
| NM_001178014.1:c.1376A>G | NP_001171485.1:p.Tyr459Cys | |
| NM_000532.5:c.1316A>G MANE Select | NP_000523.2:p.Tyr439Cys | |
| NM_001178014.2:c.1376A>G | NP_001171485.1:p.Tyr459Cys |