Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7455869G>A , CM000679.2:g.7455869G>A | GRCh38 |
| NC_000017.10:g.7359188G>A , CM000679.1:g.7359188G>A | GRCh37 |
| NC_000017.9:g.7299912G>A | NCBI36 |
| NG_008026.1:g.15783G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000306071.7:c.1293G>A MANE Select | ENSP00000304290.2:p.Pro431= | |
| ENST00000306071.6:c.1293G>A | ENSP00000304290.2:p.Pro431= | |
| ENST00000536404.6:c.1077G>A | ENSP00000439209.2:p.Pro359= | |
| ENST00000575379.1:c.-100G>A | ENSP00000461751.1:n.-100G>A | |
| ENST00000576360.1:c.930G>A | ENSP00000459092.1:p.Pro310= | |
| NM_000747.2:c.1293G>A | NP_000738.2:p.Pro431= | |
| NM_000747.3:c.1293G>A MANE Select | NP_000738.2:p.Pro431= |