Linked Data
ClinVar Variation Id:
993176
ClinVar RCV Id:
RCV001284433
dbSNP Id:
rs776348927
ExAC:
13:32914718 G / A
gnomAD v2:
13-32914718-G-A
gnomAD v4:
13-32340581-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32340581G>A , CM000675.2:g.32340581G>A | GRCh38 |
| NC_000013.10:g.32914718G>A , CM000675.1:g.32914718G>A | GRCh37 |
| NC_000013.9:g.31812718G>A | NCBI36 |
| NG_012772.3:g.30102G>A , LRG_293:g.30102G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470094.2:c.6226G>A | ENSP00000434898.2:p.Val2076Ile | |
| ENST00000528762.2:c.6226G>A | ENSP00000433168.2:p.Val2076Ile | |
| ENST00000530893.7:c.5857G>A | ENSP00000499438.2:p.Val1953Ile | |
| ENST00000665585.2:c.6226G>A | ENSP00000499570.2:p.Val2076Ile | |
| ENST00000666593.2:c.6226G>A | ENSP00000499256.2:p.Val2076Ile | |
| ENST00000700202.2:c.6226G>A | ENSP00000514856.2:p.Val2076Ile | |
| ENST00000380152.8:c.6226G>A MANE Select | ENSP00000369497.3:p.Val2076Ile | |
| ENST00000544455.6:c.6226G>A | ENSP00000439902.1:p.Val2076Ile | |
| ENST00000614259.2:c.6226G>A | ENSP00000506251.1:p.Val2076Ile | |
| ENST00000680887.1:c.6226G>A | ENSP00000505508.1:p.Val2076Ile | |
| ENST00000380152.7:c.6226G>A | ENSP00000369497.3:p.Val2076Ile | |
| ENST00000544455.5:c.6226G>A | ENSP00000439902.1:p.Val2076Ile | |
| ENST00000614259.1:n.6226G>A | ||
| NM_000059.3:c.6226G>A , LRG_293t1:c.6226G>A | NP_000050.2:p.Val2076Ile | |
| XM_011535203.1:c.6226G>A | XP_011533505.1:p.Val2076Ile | |
| XM_011535204.1:c.6226G>A | XP_011533506.1:p.Val2076Ile | |
| XM_011535205.1:c.6226G>A | XP_011533507.1:p.Val2076Ile | |
| NM_000059.4:c.6226G>A MANE Select | NP_000050.3:p.Val2076Ile |