Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89777057G>C , CM000677.2:g.89777057G>C | GRCh38 |
| NC_000015.9:g.90320288G>C , CM000677.1:g.90320288G>C | GRCh37 |
| NC_000015.8:g.88121292G>C | NCBI36 |
| NG_008608.1:g.5700G>C | |
| NG_008608.2:g.21467G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001039958.2:c.700G>C MANE Select | NP_001035047.1:p.Glu234Gln |
| ENST00000341735.5:c.700G>C MANE Select | ENSP00000342392.3:p.Glu234Gln |
| NM_001039958.1:c.700G>C | NP_001035047.1:p.Glu234Gln |
| ENST00000341735.3:c.700G>C | ENSP00000342392.3:p.Glu234Gln |
| ENST00000558723.1:n.39-1008G>C | |
| ENST00000560219.2:c.31-1008G>C | ENSP00000452998.1:n.31-1008G>C |