Linked Data
ClinVar Variation Id:
227089
dbSNP Id:
rs147433902
ExAC:
19:36497387 G / A
gnomAD v2:
19-36497387-G-A
gnomAD v3:
19-36006485-G-A
gnomAD v4:
19-36006485-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.36006485G>A , CM000681.2:g.36006485G>A | GRCh38 |
| NC_000019.9:g.36497387G>A , CM000681.1:g.36497387G>A | GRCh37 |
| NC_000019.8:g.41189227G>A | NCBI36 |
| NG_042831.1:g.7309C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324444.9:c.805C>T MANE Select | ENSP00000316130.3:p.Leu269= | |
| ENST00000397428.8:c.67-1048C>T | ||
| ENST00000465425.2:n.917C>T | ||
| ENST00000324444.7:c.805C>T | ENSP00000316130.3:p.Leu269= | |
| ENST00000340477.9:c.466C>T | ENSP00000343152.5:p.Leu156= | |
| ENST00000397428.7:c.40-1048C>T | ENSP00000380572.3:n.40-1048C>T | |
| ENST00000465425.1:n.917C>T | ||
| ENST00000490730.1:c.688+117C>T | ENSP00000422716.1:n.688+117C>T | |
| ENST00000503121.5:c.242+1732C>T | ||
| ENST00000505054.2:n.395-1048C>T | ||
| NM_001039876.1:c.805C>T | NP_001034965.1:p.Leu269= | |
| NM_001039876.2:c.805C>T | NP_001034965.1:p.Leu269= | |
| NM_001297735.1:c.466C>T | NP_001284664.1:p.Leu156= | |
| NM_001297735.2:c.466C>T | NP_001284664.1:p.Leu156= | |
| XM_005258598.2:c.688+117C>T | XP_005258655.1:n.688+117C>T | |
| XM_005258601.2:c.618+265C>T | XP_005258658.1:n.618+265C>T | |
| XM_005258604.3:c.688+117C>T | XP_005258661.1:n.688+117C>T | |
| NM_001039876.3:c.805C>T MANE Select | NP_001034965.1:p.Leu269= | |
| NM_001297735.3:c.466C>T | NP_001284664.1:p.Leu156= |