Linked Data
gnomAD v3:
19-36006456-C-T
gnomAD v4:
19-36006456-C-T
MyVariant Identifiers:
chr19:g.36497358C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.36006456C>T , CM000681.2:g.36006456C>T | GRCh38 |
| NC_000019.9:g.36497358C>T , CM000681.1:g.36497358C>T | GRCh37 |
| NC_000019.8:g.41189198C>T | NCBI36 |
| NG_042831.1:g.7338G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324444.9:c.834G>A MANE Select | ENSP00000316130.3:p.Gln278= | |
| ENST00000397428.8:c.67-1019G>A | ||
| ENST00000465425.2:n.946G>A | ||
| ENST00000324444.7:c.834G>A | ENSP00000316130.3:p.Gln278= | |
| ENST00000340477.9:c.495G>A | ENSP00000343152.5:p.Gln165= | |
| ENST00000397428.7:c.40-1019G>A | ENSP00000380572.3:n.40-1019G>A | |
| ENST00000465425.1:n.946G>A | ||
| ENST00000490730.1:c.688+146G>A | ENSP00000422716.1:n.688+146G>A | |
| ENST00000503121.5:c.242+1761G>A | ||
| ENST00000505054.2:n.395-1019G>A | ||
| NM_001039876.1:c.834G>A | NP_001034965.1:p.Gln278= | |
| NM_001039876.2:c.834G>A | NP_001034965.1:p.Gln278= | |
| NM_001297735.1:c.495G>A | NP_001284664.1:p.Gln165= | |
| NM_001297735.2:c.495G>A | NP_001284664.1:p.Gln165= | |
| XM_005258598.2:c.688+146G>A | XP_005258655.1:n.688+146G>A | |
| XM_005258601.2:c.618+294G>A | XP_005258658.1:n.618+294G>A | |
| XM_005258604.3:c.688+146G>A | XP_005258661.1:n.688+146G>A | |
| NM_001039876.3:c.834G>A MANE Select | NP_001034965.1:p.Gln278= | |
| NM_001297735.3:c.495G>A | NP_001284664.1:p.Gln165= |