Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81577931A>C , CM000665.2:g.81577931A>C | GRCh38 |
| NC_000003.11:g.81627082A>C , CM000665.1:g.81627082A>C | GRCh37 |
| NC_000003.10:g.81709772A>C | NCBI36 |
| NG_011810.1:g.188870T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000158.4:c.1612T>G MANE Select | NP_000149.4:p.Phe538Val |
| ENST00000429644.7:c.1612T>G MANE Select | ENSP00000410833.2:p.Phe538Val |
| NM_000158.3:c.1612T>G | NP_000149.3:p.Phe538Val |
| ENST00000429644.6:c.1612T>G | ENSP00000410833.2:p.Phe538Val |
| ENST00000484687.1:n.13T>G | |
| ENST00000489715.1:c.1489T>G | ENSP00000419638.1:p.Phe497Val |