Linked Data
ClinVar Variation Id:
156180
dbSNP Id:
rs587776476
gnomAD v2:
13-32969002-G-A
gnomAD v4:
13-32394865-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32394865G>A , CM000675.2:g.32394865G>A | GRCh38 |
| NC_000013.10:g.32969002G>A , CM000675.1:g.32969002G>A | GRCh37 |
| NC_000013.9:g.31867002G>A | NCBI36 |
| NG_012772.3:g.84386G>A , LRG_293:g.84386G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.9433G>A | ENSP00000434898.2:p.Val3145Met | |
| ENST00000528762.2:c.*800G>A | ENSP00000433168.2:n.*800G>A | |
| ENST00000530893.7:c.9064G>A | ENSP00000499438.2:p.Val3022Met | |
| ENST00000665585.2:c.*995G>A | ENSP00000499570.2:n.*995G>A | |
| ENST00000666593.2:c.*278G>A | ENSP00000499256.2:n.*278G>A | |
| ENST00000700202.2:c.9382G>A | ENSP00000514856.2:p.Val3128Met | |
| ENST00000700202.1:c.1849G>A | ENSP00000514856.1:p.Val617Met | |
| ENST00000700203.1:n.1560G>A | ||
| ENST00000380152.8:c.9433G>A MANE Select | ENSP00000369497.3:p.Val3145Met | |
| ENST00000544455.6:c.9433G>A | ENSP00000439902.1:p.Val3145Met | |
| ENST00000614259.2:c.9441G>A | ENSP00000506251.1:n.9441G>A | |
| ENST00000665585.1:c.2311G>A | ||
| ENST00000666593.1:c.455G>A | ENSP00000499256.1:n.455G>A | |
| ENST00000680887.1:c.9433G>A | ENSP00000505508.1:p.Val3145Met | |
| ENST00000380152.7:c.9433G>A | ENSP00000369497.3:p.Val3145Met | |
| ENST00000470094.1:c.390G>A | ||
| ENST00000544455.5:c.9433G>A | ENSP00000439902.1:p.Val3145Met | |
| NM_000059.3:c.9433G>A , LRG_293t1:c.9433G>A | NP_000050.2:p.Val3145Met | |
| XM_011535203.1:c.9433G>A | XP_011533505.1:p.Val3145Met | |
| XM_011535204.1:c.9337G>A | XP_011533506.1:p.Val3113Met | |
| NM_000059.4:c.9433G>A MANE Select | NP_000050.3:p.Val3145Met |