Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42536630G>A , CM000679.2:g.42536630G>A | GRCh38 |
| NC_000017.10:g.40688648G>A , CM000679.1:g.40688648G>A | GRCh37 |
| NC_000017.9:g.37942174G>A | NCBI36 |
| NG_011552.1:g.5698G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.358G>A MANE Select | ENSP00000225927.1:p.Glu120Lys | |
| ENST00000225927.6:c.358G>A | ENSP00000225927.1:p.Glu120Lys | |
| ENST00000586516.5:c.108G>A | ||
| ENST00000591587.1:c.101G>A | ENSP00000467836.1:p.Gly34Glu | |
| NM_000263.3:c.358G>A | NP_000254.2:p.Glu120Lys | |
| XM_006721920.2:c.-385G>A | XP_006721983.1:n.-385G>A | |
| XM_011524840.1:c.-385G>A | XP_011523142.1:n.-385G>A | |
| XM_024450771.1:c.358G>A | XP_024306539.1:p.Glu120Lys | |
| NM_000263.4:c.358G>A MANE Select | NP_000254.2:p.Glu120Lys |