Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.173232745C>G , CM000667.2:g.173232745C>G | GRCh38 |
| NC_000005.9:g.172659748C>G , CM000667.1:g.172659748C>G | GRCh37 |
| NC_000005.8:g.172592354C>G | NCBI36 |
| NG_013340.1:g.7568G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004387.4:c.799G>C MANE Select | NP_004378.1:p.Gly267Arg |
| ENST00000329198.5:c.799G>C MANE Select | ENSP00000327758.4:p.Gly267Arg |
| NM_001166175.1:c.*752G>C | NP_001159647.1:n.*752G>C |
| NM_001166175.2:c.*752G>C | NP_001159647.1:n.*752G>C |
| NM_001166176.1:c.*598G>C | NP_001159648.1:n.*598G>C |
| NM_001166176.2:c.*598G>C | NP_001159648.1:n.*598G>C |
| NM_004387.3:c.799G>C | NP_004378.1:p.Gly267Arg |
| ENST00000329198.4:c.799G>C | ENSP00000327758.4:p.Gly267Arg |