Linked Data
ClinVar Variation Id:
309737
ClinVar RCV Id:
RCV000393948
dbSNP Id:
rs766985003
ExAC:
12:53709559 C / A
gnomAD v2:
12-53709559-C-A
gnomAD v4:
12-53315775-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53315775C>A , CM000674.2:g.53315775C>A | GRCh38 |
| NC_000012.11:g.53709559C>A , CM000674.1:g.53709559C>A | GRCh37 |
| NC_000012.10:g.51995826C>A | NCBI36 |
| NG_016775.1:g.10854G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209873.9:c.259G>T MANE Select | ENSP00000209873.4:p.Val87Leu | |
| ENST00000546393.7:n.357G>T | ||
| ENST00000546562.6:n.276G>T | ||
| ENST00000547238.6:n.701G>T | ||
| ENST00000547520.6:n.193G>T | ||
| ENST00000547757.2:c.-594G>T | ENSP00000448020.2:n.-594G>T | |
| ENST00000548880.2:n.409G>T | ||
| ENST00000549450.6:n.193G>T | ||
| ENST00000552161.6:n.721G>T | ||
| ENST00000672797.1:n.712G>T | ||
| ENST00000672900.1:n.10G>T | ||
| ENST00000209873.8:c.259G>T | ENSP00000209873.4:p.Val87Leu | |
| ENST00000394384.7:c.259G>T | ENSP00000377908.3:p.Val87Leu | |
| ENST00000546562.5:n.276G>T | ||
| ENST00000547238.5:n.652G>T | ||
| ENST00000547757.1:c.259G>T | ENSP00000448020.1:p.Val87Leu | |
| ENST00000547761.6:n.243G>T | ||
| ENST00000548258.5:n.287G>T | ||
| ENST00000548880.1:n.354G>T | ||
| ENST00000549450.5:n.193G>T | ||
| ENST00000549821.5:n.257G>T | ||
| ENST00000549983.5:n.282G>T | ||
| ENST00000550286.5:c.-22G>T | ENSP00000446885.1:n.-22G>T | |
| ENST00000551724.5:n.309G>T | ||
| ENST00000552161.5:n.354G>T | ||
| ENST00000552876.5:n.701G>T | ||
| NM_001173466.1:c.259G>T | NP_001166937.1:p.Val87Leu | |
| NM_015665.5:c.259G>T | NP_056480.1:p.Val87Leu | |
| XM_006719617.2:c.274G>T | XP_006719680.1:p.Val92Leu | |
| XM_006719619.2:c.274G>T | XP_006719682.1:p.Val92Leu | |
| XM_011538777.1:c.274G>T | XP_011537079.1:p.Val92Leu | |
| XM_011538778.1:c.259G>T | XP_011537080.1:p.Val87Leu | |
| XM_011538779.1:c.274G>T | XP_011537081.1:p.Val92Leu | |
| XM_011538780.1:c.259G>T | XP_011537082.1:p.Val87Leu | |
| XM_011538778.2:c.259G>T | XP_011537080.1:p.Val87Leu | |
| XM_011538780.2:c.259G>T | XP_011537082.1:p.Val87Leu | |
| XR_001748875.2:n.379G>T | ||
| NM_015665.6:c.259G>T MANE Select | NP_056480.1:p.Val87Leu | |
| NM_001173466.2:c.259G>T | NP_001166937.1:p.Val87Leu |