Linked Data
ClinVar Variation Id:
203882
dbSNP Id:
rs572246667
ExAC:
3:136019929 C / A
gnomAD v2:
3-136019929-C-A
gnomAD v3:
3-136301087-C-A
gnomAD v4:
3-136301087-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.136301087C>A , CM000665.2:g.136301087C>A | GRCh38 |
| NC_000003.11:g.136019929C>A , CM000665.1:g.136019929C>A | GRCh37 |
| NC_000003.10:g.137502619C>A | NCBI36 |
| NG_008939.1:g.55763C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251654.9:c.942C>A MANE Select | ENSP00000251654.4:p.Tyr314Ter | |
| ENST00000251654.8:c.942C>A | ENSP00000251654.4:p.Tyr314Ter | |
| ENST00000462637.5:c.873C>A | ENSP00000420391.1:p.Tyr291Ter | |
| ENST00000466072.5:c.942C>A | ENSP00000420158.1:p.Tyr314Ter | |
| ENST00000468777.5:c.1035C>A | ENSP00000419129.1:p.Tyr345Ter | |
| ENST00000469217.5:c.1002C>A | ENSP00000419027.1:p.Tyr334Ter | |
| ENST00000471595.5:c.942C>A | ENSP00000417549.1:p.Tyr314Ter | |
| ENST00000473073.1:n.899C>A | ||
| ENST00000474833.5:n.567C>A | ||
| ENST00000475214.5:n.856C>A | ||
| ENST00000478469.5:c.884+3015C>A | ENSP00000420759.1:n.884+3015C>A | |
| ENST00000482086.5:c.594C>A | ENSP00000417253.1:p.Tyr198Ter | |
| ENST00000483687.5:c.885C>A | ENSP00000420639.1:p.Tyr295Ter | |
| ENST00000484181.5:c.942C>A | ENSP00000417937.1:p.Tyr314Ter | |
| ENST00000490504.5:c.771C>A | ENSP00000418307.1:p.Tyr257Ter | |
| NM_000532.4:c.942C>A | NP_000523.2:p.Tyr314Ter | |
| NM_001178014.1:c.1002C>A | NP_001171485.1:p.Tyr334Ter | |
| XM_011512873.1:c.942C>A | XP_011511175.1:p.Tyr314Ter | |
| XM_011512873.2:c.942C>A | XP_011511175.1:p.Tyr314Ter | |
| NM_000532.5:c.942C>A MANE Select | NP_000523.2:p.Tyr314Ter | |
| NM_001178014.2:c.1002C>A | NP_001171485.1:p.Tyr334Ter |