Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2297420G>T , CM000678.2:g.2297420G>T | GRCh38 |
| NC_000016.9:g.2347421G>T , CM000678.1:g.2347421G>T | GRCh37 |
| NC_000016.8:g.2287422G>T | NCBI36 |
| NG_011790.1:g.48327C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001089.3:c.2172C>A MANE Select | NP_001080.2:p.Asp724Glu |
| ENST00000301732.10:c.2172C>A MANE Select | ENSP00000301732.5:p.Asp724Glu |
| NM_001089.2:c.2172C>A | NP_001080.2:p.Asp724Glu |
| ENST00000301732.9:c.2172C>A | ENSP00000301732.5:p.Asp724Glu |
| ENST00000382381.7:c.1998C>A | ENSP00000371818.3:p.Asp666Glu |
| ENST00000563623.5:n.2735C>A |