Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81670863A>C , CM000665.2:g.81670863A>C | GRCh38 |
| NC_000003.11:g.81720014A>C , CM000665.1:g.81720014A>C | GRCh37 |
| NC_000003.10:g.81802704A>C | NCBI36 |
| NG_011810.1:g.95938T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.404T>G MANE Select | ENSP00000410833.2:p.Leu135Arg | |
| ENST00000429644.6:c.404T>G | ENSP00000410833.2:p.Leu135Arg | |
| ENST00000477426.1:n.120T>G | ||
| ENST00000489715.1:c.281T>G | ENSP00000419638.1:p.Leu94Arg | |
| NM_000158.3:c.404T>G | NP_000149.3:p.Leu135Arg | |
| NM_000158.4:c.404T>G MANE Select | NP_000149.4:p.Leu135Arg |