Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46689222T>G , CM000682.2:g.46689222T>G | GRCh38 |
| NC_000020.10:g.45317861T>G , CM000682.1:g.45317861T>G | GRCh37 |
| NC_000020.9:g.44751268T>G | NCBI36 |
| NG_047182.1:g.264A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_033550.4:c.193A>C MANE Select | NP_291028.3:p.Lys65Gln |
| ENST00000372114.4:c.193A>C MANE Select | ENSP00000361186.3:p.Lys65Gln |
| NM_033550.3:c.193A>C | NP_291028.3:p.Lys65Gln |
| ENST00000372102.3:c.193A>C | ENSP00000361174.3:p.Lys65Gln |
| ENST00000372114.3:c.193A>C | ENSP00000361186.3:p.Lys65Gln |