Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.101251319C>T , CM000677.2:g.101251319C>T | GRCh38 |
| NC_000015.9:g.101791524C>T , CM000677.1:g.101791524C>T | GRCh37 |
| NC_000015.8:g.99609047C>T | NCBI36 |
| NG_031908.1:g.5614G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014918.5:c.138G>A MANE Select | NP_055733.2:p.Glu46= |
| ENST00000254190.4:c.138G>A MANE Select | ENSP00000254190.3:p.Glu46= |
| NM_014918.4:c.138G>A | NP_055733.2:p.Glu46= |
| ENST00000254190.3:c.138G>A | ENSP00000254190.3:p.Glu46= |
| XM_011521364.1:c.138G>A | XP_011519666.1:p.Glu46= |
| XM_011521364.2:c.138G>A | XP_011519666.1:p.Glu46= |