Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94011304G>A , CM000663.2:g.94011304G>A | GRCh38 |
| NC_000001.10:g.94476860G>A , CM000663.1:g.94476860G>A | GRCh37 |
| NC_000001.9:g.94249448G>A | NCBI36 |
| NG_009073.1:g.114846C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.5542C>T MANE Select | ENSP00000359245.3:p.Leu1848Phe | |
| ENST00000370225.3:c.5542C>T | ENSP00000359245.3:p.Leu1848Phe | |
| ENST00000536513.5:c.1918C>T | ENSP00000439707.2:p.Leu640Phe | |
| NM_000350.2:c.5542C>T | NP_000341.2:p.Leu1848Phe | |
| NM_000350.3:c.5542C>T MANE Select | NP_000341.2:p.Leu1848Phe |