Linked Data
MyVariant Identifiers:
chr19:g.55666181G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154813G>T , CM000681.2:g.55154813G>T | GRCh38 |
| NC_000019.9:g.55666181G>T , CM000681.1:g.55666181G>T | GRCh37 |
| NC_000019.8:g.60357993G>T | NCBI36 |
| NG_007866.2:g.7920C>A , LRG_432:g.7920C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.300C>A MANE Select | ENSP00000341838.5:p.Leu100= | |
| ENST00000665070.1:c.300C>A | ENSP00000499482.1:p.Leu100= | |
| ENST00000344887.9:c.300C>A | ENSP00000341838.5:p.Leu100= | |
| ENST00000585806.5:n.299C>A | ||
| ENST00000586669.5:n.308C>A | ||
| ENST00000587176.5:n.484C>A | ||
| ENST00000587871.1:c.919C>A | ||
| ENST00000588882.1:c.225C>A | ENSP00000466729.1:p.Leu75= | |
| ENST00000590463.1:n.472C>A | ||
| NM_000363.4:c.300C>A , LRG_432t1:c.300C>A | NP_000354.4:p.Leu100= | |
| NM_000363.5:c.300C>A MANE Select | NP_000354.4:p.Leu100= |