Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94041391T>G , CM000663.2:g.94041391T>G | GRCh38 |
| NC_000001.10:g.94506947T>G , CM000663.1:g.94506947T>G | GRCh37 |
| NC_000001.9:g.94279535T>G | NCBI36 |
| NG_009073.1:g.84759A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.3340A>C MANE Select | ENSP00000359245.3:p.Ile1114Leu | |
| ENST00000370225.3:c.3340A>C | ENSP00000359245.3:p.Ile1114Leu | |
| ENST00000536513.5:c.-64-1302A>C | ENSP00000439707.2:n.-64-1302A>C | |
| NM_000350.2:c.3340A>C | NP_000341.2:p.Ile1114Leu | |
| NM_000350.3:c.3340A>C MANE Select | NP_000341.2:p.Ile1114Leu |