Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154788C>G , CM000681.2:g.55154788C>G | GRCh38 |
| NC_000019.9:g.55666156C>G , CM000681.1:g.55666156C>G | GRCh37 |
| NC_000019.8:g.60357968C>G | NCBI36 |
| NG_007866.2:g.7945G>C , LRG_432:g.7945G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.325G>C MANE Select | ENSP00000341838.5:p.Glu109Gln | |
| ENST00000665070.1:c.325G>C | ENSP00000499482.1:p.Glu109Gln | |
| ENST00000344887.9:c.325G>C | ENSP00000341838.5:p.Glu109Gln | |
| ENST00000585806.5:n.324G>C | ||
| ENST00000586669.5:n.333G>C | ||
| ENST00000587176.5:n.509G>C | ||
| ENST00000587871.1:c.944G>C | ||
| ENST00000588882.1:c.250G>C | ENSP00000466729.1:p.Glu84Gln | |
| ENST00000590463.1:n.497G>C | ||
| NM_000363.4:c.325G>C , LRG_432t1:c.325G>C | NP_000354.4:p.Glu109Gln | |
| NM_000363.5:c.325G>C MANE Select | NP_000354.4:p.Glu109Gln |