Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.186539501T= , CM000665.2:g.186539501T= | GRCh38 |
| NC_000003.11:g.186257290T= , CM000665.1:g.186257290T= | GRCh37 |
| NC_000003.10:g.187739984T= | NCBI36 |
| NG_009829.1:g.9878A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307944.6:c.118A= MANE Select | ENSP00000312099.5:p.Ile40= | |
| ENST00000307944.5:c.118A= | ENSP00000312099.5:p.Ile40= | |
| ENST00000392499.6:c.118A= | ENSP00000376287.2:p.Ile40= | |
| ENST00000460288.1:n.1020A= | ||
| NM_017541.2:c.118A= | NP_060011.1:p.Ile40= | |
| NM_017541.3:c.118A= | NP_060011.1:p.Ile40= | |
| NM_017541.4:c.118A= MANE Select | NP_060011.1:p.Ile40= |