Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48633457G>T , CM000681.2:g.48633457G>T | GRCh38 |
| NC_000019.9:g.49136714G>T , CM000681.1:g.49136714G>T | GRCh37 |
| NC_000019.8:g.53828526G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222122.10:c.749C>A MANE Select | ENSP00000222122.4:p.Pro250Gln | |
| ENST00000222122.9:c.749C>A | ENSP00000222122.4:p.Pro250Gln | |
| ENST00000593500.1:c.143C>A | ENSP00000471220.1:p.Pro48Gln | |
| ENST00000594723.1:n.2992C>A | ||
| ENST00000599385.5:c.143C>A | ENSP00000469426.1:p.Pro48Gln | |
| ENST00000601104.1:c.749C>A | ENSP00000469291.1:p.Pro250Gln | |
| NM_001352.4:c.749C>A | NP_001343.2:p.Pro250Gln | |
| XM_017026388.2:c.320C>A | XP_016881877.1:p.Pro107Gln | |
| XR_243907.4:n.1654C>A | ||
| NM_001352.5:c.749C>A MANE Select | NP_001343.2:p.Pro250Gln |