Linked Data
ClinVar Variation Id:
265422
dbSNP Id:
rs186031457
ExAC:
3:135975430 C / T
gnomAD v2:
3-135975430-C-T
gnomAD v3:
3-136256588-C-T
gnomAD v4:
3-136256588-C-T
PubMed:
PMID:17415538
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.136256588C>T , CM000665.2:g.136256588C>T | GRCh38 |
| NC_000003.11:g.135975430C>T , CM000665.1:g.135975430C>T | GRCh37 |
| NC_000003.10:g.137458120C>T | NCBI36 |
| NG_008939.1:g.11264C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251654.9:c.337C>T MANE Select | ENSP00000251654.4:p.Arg113Ter | |
| ENST00000251654.8:c.337C>T | ENSP00000251654.4:p.Arg113Ter | |
| ENST00000459873.1:c.88C>T | ENSP00000419293.1:p.Arg30Ter | |
| ENST00000462542.5:c.204C>T | ||
| ENST00000462637.5:c.303+613C>T | ENSP00000420391.1:n.303+613C>T | |
| ENST00000465176.5:n.299C>T | ||
| ENST00000465423.5:c.424C>T | ENSP00000419263.1:p.Arg142Ter | |
| ENST00000466072.5:c.337C>T | ENSP00000420158.1:p.Arg113Ter | |
| ENST00000468777.5:c.337C>T | ENSP00000419129.1:p.Arg113Ter | |
| ENST00000469217.5:c.337C>T | ENSP00000419027.1:p.Arg113Ter | |
| ENST00000471595.5:c.337C>T | ENSP00000417549.1:p.Arg113Ter | |
| ENST00000474833.5:n.168+6030C>T | ||
| ENST00000475214.5:n.251C>T | ||
| ENST00000478469.5:c.337C>T | ENSP00000420759.1:p.Arg113Ter | |
| ENST00000482086.5:c.94-5376C>T | ENSP00000417253.1:n.94-5376C>T | |
| ENST00000483687.5:c.337C>T | ENSP00000420639.1:p.Arg113Ter | |
| ENST00000484181.5:c.337C>T | ENSP00000417937.1:p.Arg113Ter | |
| ENST00000490504.5:c.337C>T | ENSP00000418307.1:p.Arg113Ter | |
| ENST00000494742.5:c.88C>T | ENSP00000418020.1:p.Arg30Ter | |
| NM_000532.4:c.337C>T | NP_000523.2:p.Arg113Ter | |
| NM_001178014.1:c.337C>T | NP_001171485.1:p.Arg113Ter | |
| XM_011512873.1:c.337C>T | XP_011511175.1:p.Arg113Ter | |
| XM_011512873.2:c.337C>T | XP_011511175.1:p.Arg113Ter | |
| NM_000532.5:c.337C>T MANE Select | NP_000523.2:p.Arg113Ter | |
| NM_001178014.2:c.337C>T | NP_001171485.1:p.Arg113Ter |