Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42536623G>A , CM000679.2:g.42536623G>A | GRCh38 |
| NC_000017.10:g.40688641G>A , CM000679.1:g.40688641G>A | GRCh37 |
| NC_000017.9:g.37942167G>A | NCBI36 |
| NG_011552.1:g.5691G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.351G>A MANE Select | ENSP00000225927.1:p.Val117= | |
| ENST00000225927.6:c.351G>A | ENSP00000225927.1:p.Val117= | |
| ENST00000586516.5:c.101G>A | ||
| ENST00000591587.1:c.94G>A | ENSP00000467836.1:p.Ala32Thr | |
| NM_000263.3:c.351G>A | NP_000254.2:p.Val117= | |
| XM_006721920.2:c.-392G>A | XP_006721983.1:n.-392G>A | |
| XM_011524840.1:c.-392G>A | XP_011523142.1:n.-392G>A | |
| XM_024450771.1:c.351G>A | XP_024306539.1:p.Val117= | |
| NM_000263.4:c.351G>A MANE Select | NP_000254.2:p.Val117= |