Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42536276G>T , CM000679.2:g.42536276G>T | GRCh38 |
| NC_000017.10:g.40688294G>T , CM000679.1:g.40688294G>T | GRCh37 |
| NC_000017.9:g.37941820G>T | NCBI36 |
| NG_011552.1:g.5344G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000263.4:c.4G>T MANE Select | NP_000254.2:p.Glu2Ter |
| ENST00000225927.7:c.4G>T MANE Select | ENSP00000225927.1:p.Glu2Ter |
| NM_000263.3:c.4G>T | NP_000254.2:p.Glu2Ter |
| ENST00000225927.6:c.4G>T | ENSP00000225927.1:p.Glu2Ter |
| XM_024450771.1:c.4G>T | XP_024306539.1:p.Glu2Ter |