Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.45262614C>A , CM000667.2:g.45262614C>A | GRCh38 |
| NC_000005.9:g.45262716C>A , CM000667.1:g.45262716C>A | GRCh37 |
| NC_000005.8:g.45298473C>A | NCBI36 |
| NG_042183.1:g.438505G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021072.4:c.1980G>T MANE Select | NP_066550.2:p.Met660Ile |
| ENST00000303230.6:c.1980G>T MANE Select | ENSP00000307342.4:p.Met660Ile |
| NM_021072.3:c.1980G>T | NP_066550.2:p.Met660Ile |
| ENST00000303230.5:c.1980G>T | ENSP00000307342.4:p.Met660Ile |
| ENST00000637305.1:n.1143G>T | |
| ENST00000673735.1:c.*205G>T | ENSP00000501107.1:n.*205G>T |