Linked Data
ClinVar Variation Id:
309612
dbSNP Id:
rs765620105
ExAC:
12:53042884 G / A
gnomAD v2:
12-53042884-G-A
gnomAD v3:
12-52649100-G-A
gnomAD v4:
12-52649100-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52649100G>A , CM000674.2:g.52649100G>A | GRCh38 |
| NC_000012.11:g.53042884G>A , CM000674.1:g.53042884G>A | GRCh37 |
| NC_000012.10:g.51329151G>A | NCBI36 |
| NG_008296.1:g.8076C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309680.4:c.864C>T MANE Select | ENSP00000310861.3:p.Asp288= | |
| ENST00000309680.3:c.864C>T | ENSP00000310861.3:p.Asp288= | |
| ENST00000547106.1:n.398C>T | ||
| NM_000423.2:c.864C>T | NP_000414.2:p.Asp288= | |
| NM_000423.3:c.864C>T MANE Select | NP_000414.2:p.Asp288= |