Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48633467T>G , CM000681.2:g.48633467T>G | GRCh38 |
| NC_000019.9:g.49136724T>G , CM000681.1:g.49136724T>G | GRCh37 |
| NC_000019.8:g.53828536T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222122.10:c.739A>C MANE Select | ENSP00000222122.4:p.Ile247Leu | |
| ENST00000222122.9:c.739A>C | ENSP00000222122.4:p.Ile247Leu | |
| ENST00000593500.1:c.133A>C | ENSP00000471220.1:p.Ile45Leu | |
| ENST00000594723.1:n.2982A>C | ||
| ENST00000599385.5:c.133A>C | ENSP00000469426.1:p.Ile45Leu | |
| ENST00000601104.1:c.739A>C | ENSP00000469291.1:p.Ile247Leu | |
| NM_001352.4:c.739A>C | NP_001343.2:p.Ile247Leu | |
| XM_017026388.2:c.310A>C | XP_016881877.1:p.Ile104Leu | |
| XR_243907.4:n.1644A>C | ||
| NM_001352.5:c.739A>C MANE Select | NP_001343.2:p.Ile247Leu |