Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45176005C>T , CM000682.2:g.45176005C>T | GRCh38 |
| NC_000020.10:g.43804646C>T , CM000682.1:g.43804646C>T | GRCh37 |
| NC_000020.9:g.43238060C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002638.4:c.224C>T MANE Select | NP_002629.1:p.Ser75Phe |
| ENST00000243924.4:c.224C>T MANE Select | ENSP00000243924.3:p.Ser75Phe |
| NM_002638.3:c.224C>T | NP_002629.1:p.Ser75Phe |
| ENST00000243924.3:c.224C>T | ENSP00000243924.3:p.Ser75Phe |