Linked Data
ClinVar Variation Id:
91526
dbSNP Id:
rs398122615
ExAC:
13:32969065 G / A
gnomAD v2:
13-32969065-G-A
gnomAD v3:
13-32394928-G-A
gnomAD v4:
13-32394928-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32394928G>A , CM000675.2:g.32394928G>A | GRCh38 |
| NC_000013.10:g.32969065G>A , CM000675.1:g.32969065G>A | GRCh37 |
| NC_000013.9:g.31867065G>A | NCBI36 |
| NG_012772.3:g.84449G>A , LRG_293:g.84449G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.9496G>A | ENSP00000434898.2:p.Val3166Ile | |
| ENST00000528762.2:c.*863G>A | ENSP00000433168.2:n.*863G>A | |
| ENST00000530893.7:c.9127G>A | ENSP00000499438.2:p.Val3043Ile | |
| ENST00000665585.2:c.*1058G>A | ENSP00000499570.2:n.*1058G>A | |
| ENST00000666593.2:c.*341G>A | ENSP00000499256.2:n.*341G>A | |
| ENST00000700202.2:c.9445G>A | ENSP00000514856.2:p.Val3149Ile | |
| ENST00000700202.1:c.1912G>A | ENSP00000514856.1:p.Val638Ile | |
| ENST00000700203.1:n.1623G>A | ||
| ENST00000380152.8:c.9496G>A MANE Select | ENSP00000369497.3:p.Val3166Ile | |
| ENST00000544455.6:c.9496G>A | ENSP00000439902.1:p.Val3166Ile | |
| ENST00000614259.2:c.9504G>A | ENSP00000506251.1:n.9504G>A | |
| ENST00000665585.1:c.2374G>A | ||
| ENST00000666593.1:c.518G>A | ENSP00000499256.1:n.518G>A | |
| ENST00000680887.1:c.9496G>A | ENSP00000505508.1:p.Val3166Ile | |
| ENST00000380152.7:c.9496G>A | ENSP00000369497.3:p.Val3166Ile | |
| ENST00000470094.1:c.453G>A | ||
| ENST00000544455.5:c.9496G>A | ENSP00000439902.1:p.Val3166Ile | |
| NM_000059.3:c.9496G>A , LRG_293t1:c.9496G>A | NP_000050.2:p.Val3166Ile | |
| XM_011535203.1:c.9496G>A | XP_011533505.1:p.Val3166Ile | |
| XM_011535204.1:c.9400G>A | XP_011533506.1:p.Val3134Ile | |
| NM_000059.4:c.9496G>A MANE Select | NP_000050.3:p.Val3166Ile |