Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.137709761G>T , CM000667.2:g.137709761G>T | GRCh38 |
| NC_000005.9:g.137045450G>T , CM000667.1:g.137045450G>T | GRCh37 |
| NC_000005.8:g.137073349G>T | NCBI36 |
| NG_032569.1:g.31330C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309755.9:c.230C>A MANE Select | ENSP00000312397.4:p.Ala77Glu | |
| ENST00000309755.8:c.230C>A | ENSP00000312397.4:p.Ala77Glu | |
| ENST00000505853.1:c.110C>A | ENSP00000426173.1:p.Ala37Glu | |
| ENST00000508657.5:c.134C>A | ENSP00000422099.1:p.Ala45Glu | |
| ENST00000512977.1:n.367C>A | ||
| NM_001257194.1:c.134C>A | NP_001244123.1:p.Ala45Glu | |
| NM_017415.2:c.230C>A | NP_059111.2:p.Ala77Glu | |
| NM_017415.3:c.230C>A MANE Select | NP_059111.2:p.Ala77Glu |