Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48633451T>G , CM000681.2:g.48633451T>G | GRCh38 |
| NC_000019.9:g.49136708T>G , CM000681.1:g.49136708T>G | GRCh37 |
| NC_000019.8:g.53828520T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222122.10:c.755A>C MANE Select | ENSP00000222122.4:p.Glu252Ala | |
| ENST00000222122.9:c.755A>C | ENSP00000222122.4:p.Glu252Ala | |
| ENST00000593500.1:c.149A>C | ENSP00000471220.1:p.Glu50Ala | |
| ENST00000594723.1:n.2998A>C | ||
| ENST00000599385.5:c.149A>C | ENSP00000469426.1:p.Glu50Ala | |
| ENST00000601104.1:c.755A>C | ENSP00000469291.1:p.Glu252Ala | |
| NM_001352.4:c.755A>C | NP_001343.2:p.Glu252Ala | |
| XM_017026388.2:c.326A>C | XP_016881877.1:p.Glu109Ala | |
| XR_243907.4:n.1660A>C | ||
| NM_001352.5:c.755A>C MANE Select | NP_001343.2:p.Glu252Ala |