Linked Data
ClinVar Variation Id:
2385081
ClinVar RCV Id:
RCV004219925
dbSNP Id:
rs778349561
ExAC:
19:36497380 A / G
gnomAD v2:
19-36497380-A-G
gnomAD v4:
19-36006478-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.36006478A>G , CM000681.2:g.36006478A>G | GRCh38 |
| NC_000019.9:g.36497380A>G , CM000681.1:g.36497380A>G | GRCh37 |
| NC_000019.8:g.41189220A>G | NCBI36 |
| NG_042831.1:g.7316T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324444.9:c.812T>C MANE Select | ENSP00000316130.3:p.Val271Ala | |
| ENST00000397428.8:c.67-1041T>C | ||
| ENST00000465425.2:n.924T>C | ||
| ENST00000324444.7:c.812T>C | ENSP00000316130.3:p.Val271Ala | |
| ENST00000340477.9:c.473T>C | ENSP00000343152.5:p.Val158Ala | |
| ENST00000397428.7:c.40-1041T>C | ENSP00000380572.3:n.40-1041T>C | |
| ENST00000465425.1:n.924T>C | ||
| ENST00000490730.1:c.688+124T>C | ENSP00000422716.1:n.688+124T>C | |
| ENST00000503121.5:c.242+1739T>C | ||
| ENST00000505054.2:n.395-1041T>C | ||
| NM_001039876.1:c.812T>C | NP_001034965.1:p.Val271Ala | |
| NM_001039876.2:c.812T>C | NP_001034965.1:p.Val271Ala | |
| NM_001297735.1:c.473T>C | NP_001284664.1:p.Val158Ala | |
| NM_001297735.2:c.473T>C | NP_001284664.1:p.Val158Ala | |
| XM_005258598.2:c.688+124T>C | XP_005258655.1:n.688+124T>C | |
| XM_005258601.2:c.618+272T>C | XP_005258658.1:n.618+272T>C | |
| XM_005258604.3:c.688+124T>C | XP_005258661.1:n.688+124T>C | |
| NM_001039876.3:c.812T>C MANE Select | NP_001034965.1:p.Val271Ala | |
| NM_001297735.3:c.473T>C | NP_001284664.1:p.Val158Ala |