dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.162356033C>A , CM000663.2:g.162356033C>A | GRCh38 |
| NC_000001.10:g.162325823C>A , CM000663.1:g.162325823C>A | GRCh37 |
| NC_000001.9:g.160592447C>A | NCBI36 |
| NG_015979.1:g.291243C>A | |
| NG_015979.2:g.291243C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361897.10:c.762+680C>A MANE Select | ENSP00000355133.5:n.762+680C>A | |
| ENST00000361897.9:c.762+680C>A | ENSP00000355133.5:n.762+680C>A | |
| ENST00000430120.3:c.747+680C>A | ENSP00000396713.3:n.747+680C>A | |
| ENST00000530878.5:c.747+680C>A | ENSP00000431586.1:n.747+680C>A | |
| NM_001164757.1:c.747+680C>A | NP_001158229.1:n.747+680C>A | |
| NM_014697.2:c.762+680C>A | NP_055512.1:n.762+680C>A | |
| NM_014697.3:c.762+680C>A MANE Select | NP_055512.1:n.762+680C>A | |
| NM_001164757.2:c.747+680C>A | NP_001158229.1:n.747+680C>A |