Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.30337006G>C , CM000672.2:g.30337006G>C | GRCh38 |
| NC_000010.10:g.30625935G>C , CM000672.1:g.30625935G>C | GRCh37 |
| NC_000010.9:g.30665941G>C | NCBI36 |
| NG_028096.1:g.17333C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263063.9:c.577C>G MANE Select | ENSP00000263063.3:p.Leu193Val | |
| ENST00000263063.8:c.577C>G | ENSP00000263063.3:p.Leu193Val | |
| ENST00000417581.1:c.382C>G | ENSP00000404392.1:p.Leu128Val | |
| ENST00000488290.5:n.2332C>G | ||
| NM_018109.3:c.577C>G | NP_060579.3:p.Leu193Val | |
| NM_018109.4:c.577C>G MANE Select | NP_060579.3:p.Leu193Val |