Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94030495C>G , CM000663.2:g.94030495C>G | GRCh38 |
| NC_000001.10:g.94496051C>G , CM000663.1:g.94496051C>G | GRCh37 |
| NC_000001.9:g.94268639C>G | NCBI36 |
| NG_009073.1:g.95655G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.4285G>C MANE Select | ENSP00000359245.3:p.Val1429Leu | |
| ENST00000370225.3:c.4285G>C | ENSP00000359245.3:p.Val1429Leu | |
| ENST00000536513.5:c.661G>C | ENSP00000439707.2:p.Val221Leu | |
| NM_000350.2:c.4285G>C | NP_000341.2:p.Val1429Leu | |
| NM_000350.3:c.4285G>C MANE Select | NP_000341.2:p.Val1429Leu |