Linked Data
ClinVar Variation Id:
204121
ClinVar RCV Id:
RCV000186327
dbSNP Id:
rs180177252
ExAC:
2:241813445 G / A
gnomAD v2:
2-241813445-G-A
gnomAD v4:
2-240874028-G-A
PubMed:
PMID:17460142
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240874028G>A , CM000664.2:g.240874028G>A | GRCh38 |
| NC_000002.11:g.241813445G>A , CM000664.1:g.241813445G>A | GRCh37 |
| NC_000002.10:g.241462118G>A | NCBI36 |
| NG_008005.1:g.10284G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.646G>A MANE Select | ENSP00000302620.3:p.Gly216Arg | |
| ENST00000307503.3:c.646G>A | ENSP00000302620.3:p.Gly216Arg | |
| ENST00000476698.1:n.332+979G>A | ||
| NM_000030.2:c.646G>A | NP_000021.1:p.Gly216Arg | |
| NM_000030.3:c.646G>A MANE Select | NP_000021.1:p.Gly216Arg |