Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81670895C= , CM000665.2:g.81670895C= | GRCh38 |
| NC_000003.11:g.81720046C= , CM000665.1:g.81720046C= | GRCh37 |
| NC_000003.10:g.81802736C= | NCBI36 |
| NG_011810.1:g.95906G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.372G= MANE Select | ENSP00000410833.2:p.Leu124= | |
| ENST00000429644.6:c.372G= | ENSP00000410833.2:p.Leu124= | |
| ENST00000477426.1:n.88G= | ||
| ENST00000489715.1:c.249G= | ENSP00000419638.1:p.Leu83= | |
| NM_000158.3:c.372G= | NP_000149.3:p.Leu124= | |
| NM_000158.4:c.372G= MANE Select | NP_000149.4:p.Leu124= |