Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154813G>A , CM000681.2:g.55154813G>A | GRCh38 |
| NC_000019.9:g.55666181G>A , CM000681.1:g.55666181G>A | GRCh37 |
| NC_000019.8:g.60357993G>A | NCBI36 |
| NG_007866.2:g.7920C>T , LRG_432:g.7920C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.300C>T MANE Select | ENSP00000341838.5:p.Leu100= | |
| ENST00000665070.1:c.300C>T | ENSP00000499482.1:p.Leu100= | |
| ENST00000344887.9:c.300C>T | ENSP00000341838.5:p.Leu100= | |
| ENST00000585806.5:n.299C>T | ||
| ENST00000586669.5:n.308C>T | ||
| ENST00000587176.5:n.484C>T | ||
| ENST00000587871.1:c.919C>T | ||
| ENST00000588882.1:c.225C>T | ENSP00000466729.1:p.Leu75= | |
| ENST00000590463.1:n.472C>T | ||
| NM_000363.4:c.300C>T , LRG_432t1:c.300C>T | NP_000354.4:p.Leu100= | |
| NM_000363.5:c.300C>T MANE Select | NP_000354.4:p.Leu100= |