Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94010832C>G , CM000663.2:g.94010832C>G | GRCh38 |
| NC_000001.10:g.94476388C>G , CM000663.1:g.94476388C>G | GRCh37 |
| NC_000001.9:g.94248976C>G | NCBI36 |
| NG_009073.1:g.115318G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.5682G>C MANE Select | ENSP00000359245.3:p.Leu1894= | |
| ENST00000370225.3:c.5682G>C | ENSP00000359245.3:p.Leu1894= | |
| ENST00000465352.1:n.98G>C | ||
| ENST00000536513.5:c.2058G>C | ENSP00000439707.2:p.Leu686= | |
| NM_000350.2:c.5682G>C | NP_000341.2:p.Leu1894= | |
| NM_000350.3:c.5682G>C MANE Select | NP_000341.2:p.Leu1894= |