Linked Data
ClinVar Variation Id:
227088
dbSNP Id:
rs79311416
ExAC:
19:36497393 G / A
gnomAD v2:
19-36497393-G-A
gnomAD v3:
19-36006491-G-A
gnomAD v4:
19-36006491-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.36006491G>A , CM000681.2:g.36006491G>A | GRCh38 |
| NC_000019.9:g.36497393G>A , CM000681.1:g.36497393G>A | GRCh37 |
| NC_000019.8:g.41189233G>A | NCBI36 |
| NG_042831.1:g.7303C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324444.9:c.799C>T MANE Select | ENSP00000316130.3:p.Arg267Trp | |
| ENST00000397428.8:c.67-1054C>T | ||
| ENST00000465425.2:n.911C>T | ||
| ENST00000324444.7:c.799C>T | ENSP00000316130.3:p.Arg267Trp | |
| ENST00000340477.9:c.460C>T | ENSP00000343152.5:p.Arg154Trp | |
| ENST00000397428.7:c.40-1054C>T | ENSP00000380572.3:n.40-1054C>T | |
| ENST00000465425.1:n.911C>T | ||
| ENST00000490730.1:c.688+111C>T | ENSP00000422716.1:n.688+111C>T | |
| ENST00000503121.5:c.242+1726C>T | ||
| ENST00000505054.2:n.395-1054C>T | ||
| NM_001039876.1:c.799C>T | NP_001034965.1:p.Arg267Trp | |
| NM_001039876.2:c.799C>T | NP_001034965.1:p.Arg267Trp | |
| NM_001297735.1:c.460C>T | NP_001284664.1:p.Arg154Trp | |
| NM_001297735.2:c.460C>T | NP_001284664.1:p.Arg154Trp | |
| XM_005258598.2:c.688+111C>T | XP_005258655.1:n.688+111C>T | |
| XM_005258601.2:c.618+259C>T | XP_005258658.1:n.618+259C>T | |
| XM_005258604.3:c.688+111C>T | XP_005258661.1:n.688+111C>T | |
| NM_001039876.3:c.799C>T MANE Select | NP_001034965.1:p.Arg267Trp | |
| NM_001297735.3:c.460C>T | NP_001284664.1:p.Arg154Trp |