Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52033592C>A , CM000666.2:g.52033592C>A | GRCh38 |
| NC_000004.11:g.52899758C>A , CM000666.1:g.52899758C>A | GRCh37 |
| NC_000004.10:g.52594515C>A | NCBI36 |
| NG_008891.1:g.9728G>T , LRG_204:g.9728G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000232.5:c.82G>T MANE Select | NP_000223.1:p.Glu28Ter |
| ENST00000381431.10:c.82G>T MANE Select | ENSP00000370839.6:p.Glu28Ter |
| NM_000232.4:c.82G>T , LRG_204t1:c.82G>T | NP_000223.1:p.Glu28Ter |
| ENST00000381431.9:c.82G>T | ENSP00000370839.5:p.Glu28Ter |
| ENST00000506357.5:c.68G>T | |
| ENST00000514133.1:c.49G>T | ENSP00000425818.1:p.Glu17Ter |
| XM_011534403.1:c.34-3729G>T | XP_011532705.1:n.34-3729G>T |