Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56950505G>T , CM000679.2:g.56950505G>T | GRCh38 |
| NC_000017.10:g.55027866G>T , CM000679.1:g.55027866G>T | GRCh37 |
| NC_000017.9:g.52382865G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004645.3:c.737C>A MANE Select | NP_004636.1:p.Ser246Tyr |
| ENST00000240316.5:c.737C>A MANE Select | ENSP00000240316.4:p.Ser246Tyr |
| NM_004645.2:c.737C>A | NP_004636.1:p.Ser246Tyr |
| ENST00000240316.4:c.737C>A | ENSP00000240316.4:p.Ser246Tyr |