Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94021892A>C , CM000663.2:g.94021892A>C | GRCh38 |
| NC_000001.10:g.94487448A>C , CM000663.1:g.94487448A>C | GRCh37 |
| NC_000001.9:g.94260036A>C | NCBI36 |
| NG_009073.1:g.104258T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000350.3:c.4727T>G MANE Select | NP_000341.2:p.Leu1576Arg |
| ENST00000370225.4:c.4727T>G MANE Select | ENSP00000359245.3:p.Leu1576Arg |
| NM_000350.2:c.4727T>G | NP_000341.2:p.Leu1576Arg |
| ENST00000370225.3:c.4727T>G | ENSP00000359245.3:p.Leu1576Arg |
| ENST00000460514.1:n.221T>G | |
| ENST00000536513.5:c.1103T>G | ENSP00000439707.2:p.Leu368Arg |