Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72123706C= , CM000679.2:g.72123706C= | GRCh38 |
| NC_000017.10:g.70119847C= , CM000679.1:g.70119847C= | GRCh37 |
| NC_000017.9:g.67631442C= | NCBI36 |
| NG_012490.1:g.7687C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.849C= MANE Select | ENSP00000245479.2:p.Ile283= | |
| ENST00000245479.2:c.849C= | ENSP00000245479.2:p.Ile283= | |
| NM_000346.3:c.849C= | NP_000337.1:p.Ile283= | |
| NM_000346.4:c.849C= MANE Select | NP_000337.1:p.Ile283= |