Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81648937C>G , CM000665.2:g.81648937C>G | GRCh38 |
| NC_000003.11:g.81698088C>G , CM000665.1:g.81698088C>G | GRCh37 |
| NC_000003.10:g.81780778C>G | NCBI36 |
| NG_011810.1:g.117864G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000158.4:c.610G>C MANE Select | NP_000149.4:p.Val204Leu |
| ENST00000429644.7:c.610G>C MANE Select | ENSP00000410833.2:p.Val204Leu |
| NM_000158.3:c.610G>C | NP_000149.3:p.Val204Leu |
| ENST00000429644.6:c.610G>C | ENSP00000410833.2:p.Val204Leu |
| ENST00000489715.1:c.487G>C | ENSP00000419638.1:p.Val163Leu |
| ENST00000498468.1:n.138G>C |