Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48633463T>A , CM000681.2:g.48633463T>A | GRCh38 |
| NC_000019.9:g.49136720T>A , CM000681.1:g.49136720T>A | GRCh37 |
| NC_000019.8:g.53828532T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222122.10:c.743A>T MANE Select | ENSP00000222122.4:p.Gln248Leu | |
| ENST00000222122.9:c.743A>T | ENSP00000222122.4:p.Gln248Leu | |
| ENST00000593500.1:c.137A>T | ENSP00000471220.1:p.Gln46Leu | |
| ENST00000594723.1:n.2986A>T | ||
| ENST00000599385.5:c.137A>T | ENSP00000469426.1:p.Gln46Leu | |
| ENST00000601104.1:c.743A>T | ENSP00000469291.1:p.Gln248Leu | |
| NM_001352.4:c.743A>T | NP_001343.2:p.Gln248Leu | |
| XM_017026388.2:c.314A>T | XP_016881877.1:p.Gln105Leu | |
| XR_243907.4:n.1648A>T | ||
| NM_001352.5:c.743A>T MANE Select | NP_001343.2:p.Gln248Leu |