Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154815G>T , CM000681.2:g.55154815G>T | GRCh38 |
| NC_000019.9:g.55666183G>T , CM000681.1:g.55666183G>T | GRCh37 |
| NC_000019.8:g.60357995G>T | NCBI36 |
| NG_007866.2:g.7918C>A , LRG_432:g.7918C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.298C>A MANE Select | ENSP00000341838.5:p.Leu100Ile | |
| ENST00000665070.1:c.298C>A | ENSP00000499482.1:p.Leu100Ile | |
| ENST00000344887.9:c.298C>A | ENSP00000341838.5:p.Leu100Ile | |
| ENST00000585806.5:n.297C>A | ||
| ENST00000586669.5:n.306C>A | ||
| ENST00000587176.5:n.482C>A | ||
| ENST00000587871.1:c.917C>A | ||
| ENST00000588882.1:c.223C>A | ENSP00000466729.1:p.Leu75Ile | |
| ENST00000590463.1:n.470C>A | ||
| NM_000363.4:c.298C>A , LRG_432t1:c.298C>A | NP_000354.4:p.Leu100Ile | |
| NM_000363.5:c.298C>A MANE Select | NP_000354.4:p.Leu100Ile |