Linked Data
ClinVar Variation Id:
2915486
ClinVar RCV Id:
RCV003644852
dbSNP Id:
rs879255472
gnomAD v4:
13-32380130-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32380130G>A , CM000675.2:g.32380130G>A | GRCh38 |
| NC_000013.10:g.32954267G>A , CM000675.1:g.32954267G>A | GRCh37 |
| NC_000013.9:g.31852267G>A | NCBI36 |
| NG_012772.3:g.69651G>A , LRG_293:g.69651G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.9241G>A | ENSP00000434898.2:p.Val3081Ile | |
| ENST00000528762.2:c.*608G>A | ENSP00000433168.2:n.*608G>A | |
| ENST00000530893.7:c.8872G>A | ENSP00000499438.2:p.Val2958Ile | |
| ENST00000665585.2:c.*803G>A | ENSP00000499570.2:n.*803G>A | |
| ENST00000666593.2:c.9241G>A | ENSP00000499256.2:p.Val3081Ile | |
| ENST00000700202.2:c.9190G>A | ENSP00000514856.2:p.Val3064Ile | |
| ENST00000700202.1:c.1657G>A | ENSP00000514856.1:p.Val553Ile | |
| ENST00000700203.1:n.1368G>A | ||
| ENST00000380152.8:c.9241G>A MANE Select | ENSP00000369497.3:p.Val3081Ile | |
| ENST00000544455.6:c.9241G>A | ENSP00000439902.1:p.Val3081Ile | |
| ENST00000614259.2:c.9249G>A | ENSP00000506251.1:n.9249G>A | |
| ENST00000665585.1:c.2119G>A | ||
| ENST00000666593.1:c.124G>A | ENSP00000499256.1:p.Val42Ile | |
| ENST00000680887.1:c.9241G>A | ENSP00000505508.1:p.Val3081Ile | |
| ENST00000380152.7:c.9241G>A | ENSP00000369497.3:p.Val3081Ile | |
| ENST00000470094.1:c.198G>A | ||
| ENST00000544455.5:c.9241G>A | ENSP00000439902.1:p.Val3081Ile | |
| NM_000059.3:c.9241G>A , LRG_293t1:c.9241G>A | NP_000050.2:p.Val3081Ile | |
| XM_011535203.1:c.9241G>A | XP_011533505.1:p.Val3081Ile | |
| XM_011535204.1:c.9145G>A | XP_011533506.1:p.Val3049Ile | |
| NM_000059.4:c.9241G>A MANE Select | NP_000050.3:p.Val3081Ile |