Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.2830447G>A , CM000669.2:g.2830447G>A | GRCh38 |
| NC_000007.13:g.2870081G>A , CM000669.1:g.2870081G>A | GRCh37 |
| NC_000007.12:g.2836607G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000275364.8:c.309+13406C>T MANE Select | ENSP00000275364.3:n.309+13406C>T | |
| ENST00000275364.7:c.309+13406C>T | ENSP00000275364.3:n.309+13406C>T | |
| NM_001293092.1:c.309+13406C>T | NP_001280021.1:n.309+13406C>T | |
| NM_007353.2:c.309+13406C>T | NP_031379.2:n.309+13406C>T | |
| XM_011515288.1:c.19-35304C>T | XP_011513590.1:n.19-35304C>T | |
| XM_011515288.3:c.19-35304C>T | XP_011513590.1:n.19-35304C>T | |
| NM_007353.3:c.309+13406C>T MANE Select | NP_031379.2:n.309+13406C>T | |
| NM_001293092.2:c.309+13406C>T | NP_001280021.1:n.309+13406C>T |