Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18184578C>T , CM000679.2:g.18184578C>T | GRCh38 |
| NC_000017.10:g.18087892C>T , CM000679.1:g.18087892C>T | GRCh37 |
| NC_000017.9:g.18028617C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017758.4:c.335C>T MANE Select | NP_060228.3:p.Ser112Phe |
| ENST00000399138.5:c.335C>T MANE Select | ENSP00000382091.4:p.Ser112Phe |
| NM_017758.3:c.335C>T | NP_060228.3:p.Ser112Phe |
| ENST00000399138.4:c.335C>T | ENSP00000382091.4:p.Ser112Phe |
| ENST00000541285.1:c.-254+1313C>T | ENSP00000468116.1:n.-254+1313C>T |