Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94007688A>C , CM000663.2:g.94007688A>C | GRCh38 |
| NC_000001.10:g.94473244A>C , CM000663.1:g.94473244A>C | GRCh37 |
| NC_000001.9:g.94245832A>C | NCBI36 |
| NG_009073.1:g.118462T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000350.3:c.5951T>G MANE Select | NP_000341.2:p.Met1984Arg |
| ENST00000370225.4:c.5951T>G MANE Select | ENSP00000359245.3:p.Met1984Arg |
| NM_000350.2:c.5951T>G | NP_000341.2:p.Met1984Arg |
| ENST00000370225.3:c.5951T>G | ENSP00000359245.3:p.Met1984Arg |
| ENST00000465352.1:n.367T>G | |
| ENST00000484388.1:n.65T>G | |
| ENST00000536513.5:c.2327T>G | ENSP00000439707.2:p.Met776Arg |