Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.71817646C>A , CM000677.2:g.71817646C>A | GRCh38 |
| NC_000015.9:g.72109987C>A , CM000677.1:g.72109987C>A | GRCh37 |
| NC_000015.8:g.69897041C>A | NCBI36 |
| NG_009113.2:g.12092C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014249.4:c.1195C>A MANE Select | NP_055064.1:p.Pro399Thr |
| ENST00000617575.5:c.1195C>A MANE Select | ENSP00000482504.1:p.Pro399Thr |
| NM_014249.3:c.1195C>A | NP_055064.1:p.Pro399Thr |
| ENST00000563709.1:n.187C>A | |
| ENST00000617575.4:c.1195C>A | ENSP00000482504.1:p.Pro399Thr |
| ENST00000621736.4:c.931C>A | ENSP00000479254.1:p.Pro311Thr |
| XM_011521146.1:c.931C>A | XP_011519448.1:p.Pro311Thr |