Linked Data
ClinVar Variation Id:
529437
dbSNP Id:
rs754752068
ExAC:
3:135980848 G / T
gnomAD v2:
3-135980848-G-T
gnomAD v3:
3-136262006-G-T
gnomAD v4:
3-136262006-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.136262006G>T , CM000665.2:g.136262006G>T | GRCh38 |
| NC_000003.11:g.135980848G>T , CM000665.1:g.135980848G>T | GRCh37 |
| NC_000003.10:g.137463538G>T | NCBI36 |
| NG_008939.1:g.16682G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251654.9:c.484G>T MANE Select | ENSP00000251654.4:p.Gly162Trp | |
| ENST00000251654.8:c.484G>T | ENSP00000251654.4:p.Gly162Trp | |
| ENST00000459873.1:c.235G>T | ENSP00000419293.1:p.Gly79Trp | |
| ENST00000462542.5:c.351G>T | ||
| ENST00000462637.5:c.415G>T | ENSP00000420391.1:p.Gly139Trp | |
| ENST00000465176.5:n.446G>T | ||
| ENST00000465423.5:c.571G>T | ENSP00000419263.1:p.Gly191Trp | |
| ENST00000466072.5:c.484G>T | ENSP00000420158.1:p.Gly162Trp | |
| ENST00000468777.5:c.577G>T | ENSP00000419129.1:p.Gly193Trp | |
| ENST00000469217.5:c.544G>T | ENSP00000419027.1:p.Gly182Trp | |
| ENST00000471595.5:c.484G>T | ENSP00000417549.1:p.Gly162Trp | |
| ENST00000473073.1:n.441G>T | ||
| ENST00000474833.5:n.168+11448G>T | ||
| ENST00000475214.5:n.398G>T | ||
| ENST00000478469.5:c.484G>T | ENSP00000420759.1:p.Gly162Trp | |
| ENST00000482086.5:c.136G>T | ENSP00000417253.1:p.Gly46Trp | |
| ENST00000483687.5:c.427G>T | ENSP00000420639.1:p.Gly143Trp | |
| ENST00000484181.5:c.484G>T | ENSP00000417937.1:p.Gly162Trp | |
| ENST00000490504.5:c.372+5383G>T | ENSP00000418307.1:n.372+5383G>T | |
| ENST00000494742.5:c.235G>T | ENSP00000418020.1:p.Gly79Trp | |
| NM_000532.4:c.484G>T | NP_000523.2:p.Gly162Trp | |
| NM_001178014.1:c.544G>T | NP_001171485.1:p.Gly182Trp | |
| XM_011512873.1:c.484G>T | XP_011511175.1:p.Gly162Trp | |
| XM_011512873.2:c.484G>T | XP_011511175.1:p.Gly162Trp | |
| NM_000532.5:c.484G>T MANE Select | NP_000523.2:p.Gly162Trp | |
| NM_001178014.2:c.544G>T | NP_001171485.1:p.Gly182Trp |