Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42536621G= , CM000679.2:g.42536621G= | GRCh38 |
| NC_000017.10:g.40688639G= , CM000679.1:g.40688639G= | GRCh37 |
| NC_000017.9:g.37942165G= | NCBI36 |
| NG_011552.1:g.5689G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.349G= MANE Select | ENSP00000225927.1:p.Val117= | |
| ENST00000225927.6:c.349G= | ENSP00000225927.1:p.Val117= | |
| ENST00000586516.5:c.99G= | ||
| ENST00000591587.1:c.92G= | ENSP00000467836.1:p.Arg31= | |
| NM_000263.3:c.349G= | NP_000254.2:p.Val117= | |
| XM_006721920.2:c.-394G= | XP_006721983.1:n.-394G= | |
| XM_011524840.1:c.-394G= | XP_011523142.1:n.-394G= | |
| XM_024450771.1:c.349G= | XP_024306539.1:p.Val117= | |
| NM_000263.4:c.349G= MANE Select | NP_000254.2:p.Val117= |