Linked Data
dbSNP Id:
rs772589862
ExAC:
19:36497313 G / C
gnomAD v2:
19-36497313-G-C
gnomAD v4:
19-36006411-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.36006411G>C , CM000681.2:g.36006411G>C | GRCh38 |
| NC_000019.9:g.36497313G>C , CM000681.1:g.36497313G>C | GRCh37 |
| NC_000019.8:g.41189153G>C | NCBI36 |
| NG_042831.1:g.7383C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324444.9:c.867+12C>G MANE Select | ENSP00000316130.3:n.867+12C>G | |
| ENST00000397428.8:c.67-974C>G | ||
| ENST00000465425.2:n.991C>G | ||
| ENST00000324444.7:c.867+12C>G | ENSP00000316130.3:n.867+12C>G | |
| ENST00000340477.9:c.528+12C>G | ENSP00000343152.5:n.528+12C>G | |
| ENST00000397428.7:c.40-974C>G | ENSP00000380572.3:n.40-974C>G | |
| ENST00000465425.1:n.991C>G | ||
| ENST00000490730.1:c.688+191C>G | ENSP00000422716.1:n.688+191C>G | |
| ENST00000503121.5:c.242+1806C>G | ||
| ENST00000505054.2:n.395-974C>G | ||
| NM_001039876.1:c.867+12C>G | NP_001034965.1:n.867+12C>G | |
| NM_001039876.2:c.867+12C>G | NP_001034965.1:n.867+12C>G | |
| NM_001297735.1:c.528+12C>G | NP_001284664.1:n.528+12C>G | |
| NM_001297735.2:c.528+12C>G | NP_001284664.1:n.528+12C>G | |
| XM_005258598.2:c.688+191C>G | XP_005258655.1:n.688+191C>G | |
| XM_005258601.2:c.618+339C>G | XP_005258658.1:n.618+339C>G | |
| XM_005258604.3:c.688+191C>G | XP_005258661.1:n.688+191C>G | |
| NM_001039876.3:c.867+12C>G MANE Select | NP_001034965.1:n.867+12C>G | |
| NM_001297735.3:c.528+12C>G | NP_001284664.1:n.528+12C>G |