Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.186539495C= , CM000665.2:g.186539495C= | GRCh38 |
| NC_000003.11:g.186257284C= , CM000665.1:g.186257284C= | GRCh37 |
| NC_000003.10:g.187739978C= | NCBI36 |
| NG_009829.1:g.9884G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307944.6:c.124G= MANE Select | ENSP00000312099.5:p.Val42= | |
| ENST00000307944.5:c.124G= | ENSP00000312099.5:p.Val42= | |
| ENST00000392499.6:c.124G= | ENSP00000376287.2:p.Val42= | |
| ENST00000460288.1:n.1026G= | ||
| NM_017541.2:c.124G= | NP_060011.1:p.Val42= | |
| NM_017541.3:c.124G= | NP_060011.1:p.Val42= | |
| NM_017541.4:c.124G= MANE Select | NP_060011.1:p.Val42= |