Linked Data
ClinVar Variation Id:
462460
dbSNP Id:
rs1466452770
gnomAD v2:
13-32936808-G-A
gnomAD v4:
13-32362671-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32362671G>A , CM000675.2:g.32362671G>A | GRCh38 |
| NC_000013.10:g.32936808G>A , CM000675.1:g.32936808G>A | GRCh37 |
| NC_000013.9:g.31834808G>A | NCBI36 |
| NG_012772.3:g.52192G>A , LRG_293:g.52192G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.7954G>A | ENSP00000434898.2:p.Val2652Met | |
| ENST00000528762.2:c.7954G>A | ENSP00000433168.2:p.Val2652Met | |
| ENST00000530893.7:c.7585G>A | ENSP00000499438.2:p.Val2529Met | |
| ENST00000665585.2:c.7954G>A | ENSP00000499570.2:p.Val2652Met | |
| ENST00000666593.2:c.7954G>A | ENSP00000499256.2:p.Val2652Met | |
| ENST00000700202.2:c.7954G>A | ENSP00000514856.2:p.Val2652Met | |
| ENST00000700202.1:c.421G>A | ENSP00000514856.1:p.Val141Met | |
| ENST00000380152.8:c.7954G>A MANE Select | ENSP00000369497.3:p.Val2652Met | |
| ENST00000544455.6:c.7954G>A | ENSP00000439902.1:p.Val2652Met | |
| ENST00000614259.2:c.7962G>A | ENSP00000506251.1:n.7962G>A | |
| ENST00000665585.1:c.519G>A | ||
| ENST00000680887.1:c.7954G>A | ENSP00000505508.1:p.Val2652Met | |
| ENST00000380152.7:c.7954G>A | ENSP00000369497.3:p.Val2652Met | |
| ENST00000544455.5:c.7954G>A | ENSP00000439902.1:p.Val2652Met | |
| NM_000059.3:c.7954G>A , LRG_293t1:c.7954G>A | NP_000050.2:p.Val2652Met | |
| XM_011535203.1:c.7954G>A | XP_011533505.1:p.Val2652Met | |
| XM_011535204.1:c.7858G>A | XP_011533506.1:p.Val2620Met | |
| XM_011535205.1:c.7954G>A | XP_011533507.1:p.Val2652Met | |
| NM_000059.4:c.7954G>A MANE Select | NP_000050.3:p.Val2652Met |