Linked Data
ClinVar Variation Id:
52871
dbSNP Id:
rs397508063
gnomAD v4:
13-32396968-G-A
PubMed:
PMID:11938448
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32396968G>A , CM000675.2:g.32396968G>A | GRCh38 |
| NC_000013.10:g.32971105G>A , CM000675.1:g.32971105G>A | GRCh37 |
| NC_000013.9:g.31869105G>A | NCBI36 |
| NG_012772.3:g.86489G>A , LRG_293:g.86489G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.*95G>A | ENSP00000434898.2:n.*95G>A | |
| ENST00000528762.2:c.*939G>A | ENSP00000433168.2:n.*939G>A | |
| ENST00000530893.7:c.9203G>A | ENSP00000499438.2:p.Trp3068Ter | |
| ENST00000665585.2:c.*1134G>A | ENSP00000499570.2:n.*1134G>A | |
| ENST00000700202.2:c.9521G>A | ENSP00000514856.2:p.Trp3174Ter | |
| ENST00000700202.1:c.1988G>A | ENSP00000514856.1:p.Trp663Ter | |
| ENST00000700203.1:n.1699G>A | ||
| ENST00000380152.8:c.9572G>A MANE Select | ENSP00000369497.3:p.Trp3191Ter | |
| ENST00000544455.6:c.9572G>A | ENSP00000439902.1:p.Trp3191Ter | |
| ENST00000614259.2:c.9580G>A | ENSP00000506251.1:n.9580G>A | |
| ENST00000665585.1:c.2450G>A | ||
| ENST00000680887.1:c.9572G>A | ENSP00000505508.1:p.Trp3191Ter | |
| ENST00000380152.7:c.9572G>A | ENSP00000369497.3:p.Trp3191Ter | |
| ENST00000470094.1:c.655G>A | ||
| ENST00000533776.1:n.160G>A | ||
| ENST00000544455.5:c.9572G>A | ENSP00000439902.1:p.Trp3191Ter | |
| NM_000059.3:c.9572G>A , LRG_293t1:c.9572G>A | NP_000050.2:p.Trp3191Ter | |
| XM_011535203.1:c.9572G>A | XP_011533505.1:p.Trp3191Ter | |
| XM_011535204.1:c.9476G>A | XP_011533506.1:p.Trp3159Ter | |
| NM_000059.4:c.9572G>A MANE Select | NP_000050.3:p.Trp3191Ter |