Linked Data
ClinVar Variation Id:
309630
ClinVar RCV Id:
RCV000405109
dbSNP Id:
rs779454673
ExAC:
12:53045875 C / T
gnomAD v2:
12-53045875-C-T
gnomAD v3:
12-52652091-C-T
gnomAD v4:
12-52652091-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52652091C>T , CM000674.2:g.52652091C>T | GRCh38 |
| NC_000012.11:g.53045875C>T , CM000674.1:g.53045875C>T | GRCh37 |
| NC_000012.10:g.51332142C>T | NCBI36 |
| NG_008296.1:g.5085G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309680.4:c.52G>A MANE Select | ENSP00000310861.3:p.Gly18Arg | |
| ENST00000309680.3:c.52G>A | ENSP00000310861.3:p.Gly18Arg | |
| NM_000423.2:c.52G>A | NP_000414.2:p.Gly18Arg | |
| NM_000423.3:c.52G>A MANE Select | NP_000414.2:p.Gly18Arg |