Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154466C>T , CM000681.2:g.55154466C>T | GRCh38 |
| NC_000019.9:g.55665834C>T , CM000681.1:g.55665834C>T | GRCh37 |
| NC_000019.8:g.60357646C>T | NCBI36 |
| NG_007866.2:g.8267G>A , LRG_432:g.8267G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.373-260G>A MANE Select | ENSP00000341838.5:n.373-260G>A | |
| ENST00000665070.1:c.405+242G>A | ENSP00000499482.1:n.405+242G>A | |
| ENST00000344887.9:c.373-260G>A | ENSP00000341838.5:n.373-260G>A | |
| ENST00000585806.5:n.372-260G>A | ||
| ENST00000586669.5:n.381-260G>A | ||
| ENST00000587176.5:n.831G>A | ||
| ENST00000588882.1:c.298-260G>A | ENSP00000466729.1:n.298-260G>A | |
| NM_000363.4:c.373-260G>A , LRG_432t1:c.373-260G>A | NP_000354.4:n.373-260G>A | |
| NM_000363.5:c.373-260G>A MANE Select | NP_000354.4:n.373-260G>A |