Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.93997869G>C , CM000663.2:g.93997869G>C | GRCh38 |
| NC_000001.10:g.94463425G>C , CM000663.1:g.94463425G>C | GRCh37 |
| NC_000001.9:g.94236013G>C | NCBI36 |
| NG_009073.1:g.128281C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000350.3:c.6721C>G MANE Select | NP_000341.2:p.Leu2241Val |
| ENST00000370225.4:c.6721C>G MANE Select | ENSP00000359245.3:p.Leu2241Val |
| NM_000350.2:c.6721C>G | NP_000341.2:p.Leu2241Val |
| ENST00000370225.3:c.6721C>G | ENSP00000359245.3:p.Leu2241Val |
| ENST00000536513.5:c.3097C>G | ENSP00000439707.2:p.Leu1033Val |