Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.101243631C>T , CM000665.2:g.101243631C>T | GRCh38 |
| NC_000003.11:g.100962475C>T , CM000665.1:g.100962475C>T | GRCh37 |
| NC_000003.10:g.102445165C>T | NCBI36 |
| NG_028284.1:g.81945G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016247.4:c.2700G>A MANE Select | NP_057331.2:p.Val900= |
| ENST00000193391.8:c.2700G>A MANE Select | ENSP00000193391.6:p.Val900= |
| NM_016247.3:c.2700G>A | NP_057331.2:p.Val900= |
| ENST00000193391.7:c.2700G>A | ENSP00000193391.6:p.Val900= |
| XM_011512871.1:c.2406G>A | XP_011511173.1:p.Val802= |
| XM_011512872.1:c.2289G>A | XP_011511174.1:p.Val763= |