Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94044622A>C , CM000663.2:g.94044622A>C | GRCh38 |
| NC_000001.10:g.94510178A>C , CM000663.1:g.94510178A>C | GRCh37 |
| NC_000001.9:g.94282766A>C | NCBI36 |
| NG_009073.1:g.81528T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000350.3:c.3041T>G MANE Select | NP_000341.2:p.Leu1014Arg |
| ENST00000370225.4:c.3041T>G MANE Select | ENSP00000359245.3:p.Leu1014Arg |
| NM_000350.2:c.3041T>G | NP_000341.2:p.Leu1014Arg |
| ENST00000370225.3:c.3041T>G | ENSP00000359245.3:p.Leu1014Arg |
| ENST00000536513.5:c.-64-4533T>G | ENSP00000439707.2:n.-64-4533T>G |