Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55157309C>T , CM000681.2:g.55157309C>T | GRCh38 |
| NC_000019.9:g.55668677C>T , CM000681.1:g.55668677C>T | GRCh37 |
| NC_000019.8:g.60360489C>T | NCBI36 |
| NG_007866.2:g.5424G>A , LRG_432:g.5424G>A | |
| NG_032759.1:g.14414G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.12-1G>A MANE Select | ENSP00000341838.5:n.12-1G>A | |
| ENST00000665070.1:c.12-1G>A | ENSP00000499482.1:n.12-1G>A | |
| ENST00000344887.9:c.12-1G>A | ENSP00000341838.5:n.12-1G>A | |
| ENST00000586446.1:n.172-181G>A | ||
| ENST00000587176.5:n.196-1G>A | ||
| ENST00000587871.1:c.649-181G>A | ||
| ENST00000590463.1:n.139-1G>A | ||
| NM_000363.4:c.12-1G>A , LRG_432t1:c.12-1G>A | NP_000354.4:n.12-1G>A | |
| NM_000363.5:c.12-1G>A MANE Select | NP_000354.4:n.12-1G>A |