Linked Data
ClinVar Variation Id:
3217351
ClinVar RCV Id:
RCV004507193
dbSNP Id:
rs370030873
ExAC:
12:63195657 T / A
gnomAD v2:
12-63195657-T-A
gnomAD v3:
12-62801877-T-A
gnomAD v4:
12-62801877-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.62801877T>A , CM000674.2:g.62801877T>A | GRCh38 |
| NC_000012.11:g.63195657T>A , CM000674.1:g.63195657T>A | GRCh37 |
| NC_000012.10:g.61481924T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228705.7:c.695A>T MANE Select | ENSP00000228705.5:p.Glu232Val | |
| ENST00000228705.6:c.695A>T | ENSP00000228705.5:p.Glu232Val | |
| NM_020700.1:c.695A>T | NP_065751.1:p.Glu232Val | |
| XM_011538578.1:c.581A>T | XP_011536880.1:p.Glu194Val | |
| XM_011538579.1:c.-59A>T | XP_011536881.1:n.-59A>T | |
| XM_011538578.2:c.581A>T | XP_011536880.1:p.Glu194Val | |
| XM_017019676.2:c.695A>T | XP_016875165.1:p.Glu232Val | |
| NM_020700.2:c.695A>T MANE Select | NP_065751.1:p.Glu232Val |