Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74749868G>C , CM000677.2:g.74749868G>C | GRCh38 |
| NC_000015.9:g.75042209G>C , CM000677.1:g.75042209G>C | GRCh37 |
| NC_000015.8:g.72829262G>C | NCBI36 |
| NG_008431.1:g.32327G>C | |
| NG_008431.2:g.32327G>C | |
| NG_061543.1:g.6024G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000761.5:c.130G>C MANE Select | NP_000752.2:p.Glu44Gln |
| ENST00000343932.5:c.130G>C MANE Select | ENSP00000342007.4:p.Glu44Gln |
| NM_000761.4:c.130G>C | NP_000752.2:p.Glu44Gln |
| ENST00000343932.4:c.130G>C | ENSP00000342007.4:p.Glu44Gln |