Linked Data
ClinVar Variation Id:
38228
dbSNP Id:
rs80359200
gnomAD v4:
13-32394726-C-A
PubMed:
PMID:15131399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32394726C>A , CM000675.2:g.32394726C>A | GRCh38 |
| NC_000013.10:g.32968863C>A , CM000675.1:g.32968863C>A | GRCh37 |
| NC_000013.9:g.31866863C>A | NCBI36 |
| NG_012772.3:g.84247C>A , LRG_293:g.84247C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.9294C>A | ENSP00000434898.2:p.Tyr3098Ter | |
| ENST00000528762.2:c.*661C>A | ENSP00000433168.2:n.*661C>A | |
| ENST00000530893.7:c.8925C>A | ENSP00000499438.2:p.Tyr2975Ter | |
| ENST00000665585.2:c.*856C>A | ENSP00000499570.2:n.*856C>A | |
| ENST00000666593.2:c.*139C>A | ENSP00000499256.2:n.*139C>A | |
| ENST00000700202.2:c.9243C>A | ENSP00000514856.2:p.Tyr3081Ter | |
| ENST00000700202.1:c.1710C>A | ENSP00000514856.1:p.Tyr570Ter | |
| ENST00000700203.1:n.1421C>A | ||
| ENST00000380152.8:c.9294C>A MANE Select | ENSP00000369497.3:p.Tyr3098Ter | |
| ENST00000544455.6:c.9294C>A | ENSP00000439902.1:p.Tyr3098Ter | |
| ENST00000614259.2:c.9302C>A | ENSP00000506251.1:n.9302C>A | |
| ENST00000665585.1:c.2172C>A | ||
| ENST00000666593.1:c.316C>A | ENSP00000499256.1:n.316C>A | |
| ENST00000680887.1:c.9294C>A | ENSP00000505508.1:p.Tyr3098Ter | |
| ENST00000380152.7:c.9294C>A | ENSP00000369497.3:p.Tyr3098Ter | |
| ENST00000470094.1:c.251C>A | ||
| ENST00000544455.5:c.9294C>A | ENSP00000439902.1:p.Tyr3098Ter | |
| NM_000059.3:c.9294C>A , LRG_293t1:c.9294C>A | NP_000050.2:p.Tyr3098Ter | |
| XM_011535203.1:c.9294C>A | XP_011533505.1:p.Tyr3098Ter | |
| XM_011535204.1:c.9198C>A | XP_011533506.1:p.Tyr3066Ter | |
| NM_000059.4:c.9294C>A MANE Select | NP_000050.3:p.Tyr3098Ter |