Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52317686C>G , CM000674.2:g.52317686C>G | GRCh38 |
| NC_000012.11:g.52711470C>G , CM000674.1:g.52711470C>G | GRCh37 |
| NC_000012.10:g.50997737C>G | NCBI36 |
| NG_008352.1:g.8713G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002282.3:c.745G>C MANE Select | NP_002273.3:p.Glu249Gln |
| ENST00000293670.3:c.745G>C MANE Select | ENSP00000293670.3:p.Glu249Gln |