Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44250050G>A , CM000679.2:g.44250050G>A | GRCh38 |
| NC_000017.10:g.42327418G>A , CM000679.1:g.42327418G>A | GRCh37 |
| NC_000017.9:g.39682944G>A | NCBI36 |
| NG_007498.1:g.23085C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000342.4:c.*408C>T MANE Select | NP_000333.1:n.*408C>T |
| ENST00000262418.12:c.*408C>T MANE Select | ENSP00000262418.6:n.*408C>T |
| NM_000342.3:c.*408C>T | NP_000333.1:n.*408C>T |
| ENST00000262418.10:c.*408C>T | ENSP00000262418.6:n.*408C>T |
| ENST00000399246.3:c.*408C>T | ENSP00000382190.3:n.*408C>T |
| XM_005257593.3:c.*408C>T | XP_005257650.1:n.*408C>T |
| XM_005257593.5:c.*408C>T | XP_005257650.1:n.*408C>T |
| XM_011525129.1:c.*408C>T | XP_011523431.1:n.*408C>T |
| XM_011525129.2:c.*408C>T | XP_011523431.1:n.*408C>T |