Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55156202T>G , CM000681.2:g.55156202T>G | GRCh38 |
| NC_000019.9:g.55667570T>G , CM000681.1:g.55667570T>G | GRCh37 |
| NC_000019.8:g.60359382T>G | NCBI36 |
| NG_007866.2:g.6531A>C , LRG_432:g.6531A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.281A>C MANE Select | ENSP00000341838.5:p.Gln94Pro | |
| ENST00000665070.1:c.281A>C | ENSP00000499482.1:p.Gln94Pro | |
| ENST00000344887.9:c.281A>C | ENSP00000341838.5:p.Gln94Pro | |
| ENST00000585806.5:n.280A>C | ||
| ENST00000586669.5:n.289A>C | ||
| ENST00000587176.5:n.465A>C | ||
| ENST00000587871.1:c.900A>C | ||
| ENST00000588882.1:c.206A>C | ENSP00000466729.1:p.Gln69Pro | |
| ENST00000590463.1:n.453A>C | ||
| NM_000363.4:c.281A>C , LRG_432t1:c.281A>C | NP_000354.4:p.Gln94Pro | |
| NM_000363.5:c.281A>C MANE Select | NP_000354.4:p.Gln94Pro |