Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154800C>T , CM000681.2:g.55154800C>T | GRCh38 |
| NC_000019.9:g.55666168C>T , CM000681.1:g.55666168C>T | GRCh37 |
| NC_000019.8:g.60357980C>T | NCBI36 |
| NG_007866.2:g.7933G>A , LRG_432:g.7933G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.313G>A MANE Select | ENSP00000341838.5:p.Asp105Asn | |
| ENST00000665070.1:c.313G>A | ENSP00000499482.1:p.Asp105Asn | |
| ENST00000344887.9:c.313G>A | ENSP00000341838.5:p.Asp105Asn | |
| ENST00000585806.5:n.312G>A | ||
| ENST00000586669.5:n.321G>A | ||
| ENST00000587176.5:n.497G>A | ||
| ENST00000587871.1:c.932G>A | ||
| ENST00000588882.1:c.238G>A | ENSP00000466729.1:p.Asp80Asn | |
| ENST00000590463.1:n.485G>A | ||
| NM_000363.4:c.313G>A , LRG_432t1:c.313G>A | NP_000354.4:p.Asp105Asn | |
| NM_000363.5:c.313G>A MANE Select | NP_000354.4:p.Asp105Asn |