Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4912353G>T , CM000674.2:g.4912353G>T | GRCh38 |
| NC_000012.11:g.5021519G>T , CM000674.1:g.5021519G>T | GRCh37 |
| NC_000012.10:g.4891780G>T | NCBI36 |
| NG_011815.1:g.7447G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000217.3:c.975G>T MANE Select | NP_000208.2:p.Glu325Asp |
| ENST00000382545.5:c.975G>T MANE Select | ENSP00000371985.3:p.Glu325Asp |
| NM_000217.2:c.975G>T | NP_000208.2:p.Glu325Asp |
| ENST00000382545.3:c.975G>T | ENSP00000371985.3:p.Glu325Asp |
| ENST00000541095.1:n.105+1881G>T | |
| ENST00000543874.2:n.96+1881G>T | |
| ENST00000543874.3:n.105+1881G>T | |
| ENST00000639306.1:c.813G>T | ENSP00000492506.1:p.Glu271Asp |
| ENST00000639680.1:c.76+87G>T |