Linked Data
ClinVar Variation Id:
309626
dbSNP Id:
rs11835758
ExAC:
12:53045777 G / A
gnomAD v2:
12-53045777-G-A
gnomAD v3:
12-52651993-G-A
gnomAD v4:
12-52651993-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52651993G>A , CM000674.2:g.52651993G>A | GRCh38 |
| NC_000012.11:g.53045777G>A , CM000674.1:g.53045777G>A | GRCh37 |
| NC_000012.10:g.51332044G>A | NCBI36 |
| NG_008296.1:g.5183C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309680.4:c.150C>T MANE Select | ENSP00000310861.3:p.Gly50= | |
| ENST00000309680.3:c.150C>T | ENSP00000310861.3:p.Gly50= | |
| NM_000423.2:c.150C>T | NP_000414.2:p.Gly50= | |
| NM_000423.3:c.150C>T MANE Select | NP_000414.2:p.Gly50= |