Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6777854T= , CM000674.2:g.6777854T= | GRCh38 |
| NC_000012.11:g.6887020T= , CM000674.1:g.6887020T= | GRCh37 |
| NC_000012.10:g.6757281T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002286.6:c.1364T= MANE Select | NP_002277.4:p.Ile455= |
| ENST00000203629.3:c.1364T= MANE Select | ENSP00000203629.2:p.Ile455= |
| NM_002286.5:c.1364T= | NP_002277.4:p.Ile455= |
| ENST00000203629.2:c.1364T= | ENSP00000203629.2:p.Ile455= |
| ENST00000538079.1:n.1986T= | |
| ENST00000541049.1:n.405T= | |
| XM_011520956.1:c.1121T= | XP_011519258.1:p.Ile374= |