Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.66228135C>T , CM000679.2:g.66228135C>T | GRCh38 |
| NC_000017.10:g.64224253C>T , CM000679.1:g.64224253C>T | GRCh37 |
| NC_000017.9:g.61654715C>T | NCBI36 |
| NG_012045.1:g.6304G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000205948.11:c.126G>A MANE Select | ENSP00000205948.6:p.Glu42= | |
| ENST00000205948.10:c.126G>A | ENSP00000205948.6:p.Glu42= | |
| ENST00000577982.1:c.126G>A | ENSP00000464301.1:p.Glu42= | |
| ENST00000581797.5:c.-55G>A | ENSP00000463553.1:n.-55G>A | |
| NM_000042.2:c.126G>A | NP_000033.2:p.Glu42= | |
| NM_000042.3:c.126G>A MANE Select | NP_000033.2:p.Glu42= |