Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.44388366C>A , CM000667.2:g.44388366C>A | GRCh38 |
| NC_000005.9:g.44388468C>A , CM000667.1:g.44388468C>A | GRCh37 |
| NC_000005.8:g.44424225C>A | NCBI36 |
| NG_011446.1:g.5317G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264664.5:c.317G>T MANE Select | ENSP00000264664.4:p.Cys106Phe | |
| ENST00000264664.4:c.317G>T | ENSP00000264664.4:p.Cys106Phe | |
| NM_004465.1:c.317G>T | NP_004456.1:p.Cys106Phe | |
| XM_005248264.2:c.317G>T | XP_005248321.1:p.Cys106Phe | |
| XM_005248264.4:c.317G>T | XP_005248321.1:p.Cys106Phe | |
| NM_004465.2:c.317G>T MANE Select | NP_004456.1:p.Cys106Phe |