Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.67184176T= , CM000667.2:g.67184176T= | GRCh38 |
| NC_000005.9:g.66480004T= , CM000667.1:g.66480004T= | GRCh37 |
| NC_000005.8:g.66515760T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005582.3:c.667A= MANE Select | NP_005573.2:p.Ile223= |
| ENST00000256447.5:c.667A= MANE Select | ENSP00000256447.4:p.Ile223= |
| NM_005582.2:c.667A= | NP_005573.2:p.Ile223= |
| XM_005248504.3:c.628A= | XP_005248561.1:p.Ile210= |
| XM_005248504.4:c.628A= | XP_005248561.1:p.Ile210= |