Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.86030290C>A , CM000664.2:g.86030290C>A | GRCh38 |
| NC_000002.11:g.86257413C>A , CM000664.1:g.86257413C>A | GRCh37 |
| NC_000002.10:g.86110924C>A | NCBI36 |
| NG_050742.2:g.80866G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263857.11:c.4685G>T MANE Select | ENSP00000263857.6:p.Cys1562Phe | |
| ENST00000263857.10:c.4685G>T | ENSP00000263857.6:p.Cys1562Phe | |
| ENST00000409681.1:c.4502G>T | ENSP00000386300.1:p.Cys1501Phe | |
| NM_015425.3:c.4685G>T | NP_056240.2:p.Cys1562Phe | |
| XM_006711983.2:c.4361G>T | XP_006712046.1:p.Cys1454Phe | |
| NM_015425.5:c.4685G>T | NP_056240.2:p.Cys1562Phe | |
| NM_015425.6:c.4685G>T MANE Select | NP_056240.2:p.Cys1562Phe |