Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81670916C>G , CM000665.2:g.81670916C>G | GRCh38 |
| NC_000003.11:g.81720067C>G , CM000665.1:g.81720067C>G | GRCh37 |
| NC_000003.10:g.81802757C>G | NCBI36 |
| NG_011810.1:g.95885G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.351G>C MANE Select | ENSP00000410833.2:p.Leu117= | |
| ENST00000429644.6:c.351G>C | ENSP00000410833.2:p.Leu117= | |
| ENST00000477426.1:n.67G>C | ||
| ENST00000489715.1:c.228G>C | ENSP00000419638.1:p.Leu76= | |
| NM_000158.3:c.351G>C | NP_000149.3:p.Leu117= | |
| NM_000158.4:c.351G>C MANE Select | NP_000149.4:p.Leu117= |