Linked Data
dbSNP Id:
rs779121007
ExAC:
19:36497284 G / C
gnomAD v2:
19-36497284-G-C
gnomAD v3:
19-36006382-G-C
gnomAD v4:
19-36006382-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.36006382G>C , CM000681.2:g.36006382G>C | GRCh38 |
| NC_000019.9:g.36497284G>C , CM000681.1:g.36497284G>C | GRCh37 |
| NC_000019.8:g.41189124G>C | NCBI36 |
| NG_042831.1:g.7412C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324444.9:c.867+41C>G MANE Select | ENSP00000316130.3:n.867+41C>G | |
| ENST00000397428.8:c.67-945C>G | ||
| ENST00000465425.2:n.1020C>G | ||
| ENST00000324444.7:c.867+41C>G | ENSP00000316130.3:n.867+41C>G | |
| ENST00000340477.9:c.528+41C>G | ENSP00000343152.5:n.528+41C>G | |
| ENST00000397428.7:c.40-945C>G | ENSP00000380572.3:n.40-945C>G | |
| ENST00000465425.1:n.1020C>G | ||
| ENST00000490730.1:c.688+220C>G | ENSP00000422716.1:n.688+220C>G | |
| ENST00000503121.5:c.242+1835C>G | ||
| ENST00000505054.2:n.395-945C>G | ||
| NM_001039876.1:c.867+41C>G | NP_001034965.1:n.867+41C>G | |
| NM_001039876.2:c.867+41C>G | NP_001034965.1:n.867+41C>G | |
| NM_001297735.1:c.528+41C>G | NP_001284664.1:n.528+41C>G | |
| NM_001297735.2:c.528+41C>G | NP_001284664.1:n.528+41C>G | |
| XM_005258598.2:c.688+220C>G | XP_005258655.1:n.688+220C>G | |
| XM_005258601.2:c.618+368C>G | XP_005258658.1:n.618+368C>G | |
| XM_005258604.3:c.688+220C>G | XP_005258661.1:n.688+220C>G | |
| NM_001039876.3:c.867+41C>G MANE Select | NP_001034965.1:n.867+41C>G | |
| NM_001297735.3:c.528+41C>G | NP_001284664.1:n.528+41C>G |