Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72123668C= , CM000679.2:g.72123668C= | GRCh38 |
| NC_000017.10:g.70119809C= , CM000679.1:g.70119809C= | GRCh37 |
| NC_000017.9:g.67631404C= | NCBI36 |
| NG_012490.1:g.7649C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.811C= MANE Select | ENSP00000245479.2:p.Arg271= | |
| ENST00000245479.2:c.811C= | ENSP00000245479.2:p.Arg271= | |
| NM_000346.3:c.811C= | NP_000337.1:p.Arg271= | |
| NM_000346.4:c.811C= MANE Select | NP_000337.1:p.Arg271= |