Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42404737T= , CM000679.2:g.42404737T= | GRCh38 |
| NC_000017.10:g.40556755T= , CM000679.1:g.40556755T= | GRCh37 |
| NC_000017.9:g.37810281T= | NCBI36 |
| NG_015845.1:g.23584A= | |
| NG_015845.2:g.23584A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357037.6:c.1123A= MANE Select | ENSP00000349541.4:p.Ile375= | |
| ENST00000357037.5:c.1123A= | ENSP00000349541.4:p.Ile375= | |
| NM_012232.5:c.1123A= | NP_036364.2:p.Ile375= | |
| NM_012232.6:c.1123A= MANE Select | NP_036364.2:p.Ile375= |