Linked Data
ClinVar Variation Id:
217894
ClinVar RCV Id:
RCV000236206
dbSNP Id:
rs879253815
gnomAD v2:
3-135980857-C-T
gnomAD v3:
3-136262015-C-T
gnomAD v4:
3-136262015-C-T
COSMIC:
COSM6041015
PubMed:
PMID:27227689
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.136262015C>T , CM000665.2:g.136262015C>T | GRCh38 |
| NC_000003.11:g.135980857C>T , CM000665.1:g.135980857C>T | GRCh37 |
| NC_000003.10:g.137463547C>T | NCBI36 |
| NG_008939.1:g.16691C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251654.9:c.493C>T MANE Select | ENSP00000251654.4:p.Arg165Trp | |
| ENST00000251654.8:c.493C>T | ENSP00000251654.4:p.Arg165Trp | |
| ENST00000459873.1:c.244C>T | ENSP00000419293.1:p.Arg82Trp | |
| ENST00000462542.5:c.360C>T | ||
| ENST00000462637.5:c.424C>T | ENSP00000420391.1:p.Arg142Trp | |
| ENST00000465176.5:n.455C>T | ||
| ENST00000466072.5:c.493C>T | ENSP00000420158.1:p.Arg165Trp | |
| ENST00000468777.5:c.586C>T | ENSP00000419129.1:p.Arg196Trp | |
| ENST00000469217.5:c.553C>T | ENSP00000419027.1:p.Arg185Trp | |
| ENST00000471595.5:c.493C>T | ENSP00000417549.1:p.Arg165Trp | |
| ENST00000473073.1:n.450C>T | ||
| ENST00000474833.5:n.168+11457C>T | ||
| ENST00000475214.5:n.407C>T | ||
| ENST00000478469.5:c.493C>T | ENSP00000420759.1:p.Arg165Trp | |
| ENST00000482086.5:c.145C>T | ENSP00000417253.1:p.Arg49Trp | |
| ENST00000483687.5:c.436C>T | ENSP00000420639.1:p.Arg146Trp | |
| ENST00000484181.5:c.493C>T | ENSP00000417937.1:p.Arg165Trp | |
| ENST00000490504.5:c.372+5392C>T | ENSP00000418307.1:n.372+5392C>T | |
| ENST00000494742.5:c.244C>T | ENSP00000418020.1:p.Arg82Trp | |
| NM_000532.4:c.493C>T | NP_000523.2:p.Arg165Trp | |
| NM_001178014.1:c.553C>T | NP_001171485.1:p.Arg185Trp | |
| XM_011512873.1:c.493C>T | XP_011511175.1:p.Arg165Trp | |
| XM_011512873.2:c.493C>T | XP_011511175.1:p.Arg165Trp | |
| NM_000532.5:c.493C>T MANE Select | NP_000523.2:p.Arg165Trp | |
| NM_001178014.2:c.553C>T | NP_001171485.1:p.Arg185Trp |