Linked Data
ClinVar Variation Id:
228294
dbSNP Id:
rs200484521
ExAC:
19:36497493 C / T
gnomAD v2:
19-36497493-C-T
gnomAD v3:
19-36006591-C-T
gnomAD v4:
19-36006591-C-T
PubMed:
PMID:23348741
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.36006591C>T , CM000681.2:g.36006591C>T | GRCh38 |
| NC_000019.9:g.36497493C>T , CM000681.1:g.36497493C>T | GRCh37 |
| NC_000019.8:g.41189333C>T | NCBI36 |
| NG_042831.1:g.7203G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000324444.9:c.699G>A MANE Select | ENSP00000316130.3:p.Trp233Ter | |
| ENST00000397428.8:c.67-1154G>A | ||
| ENST00000465425.2:n.811G>A | ||
| ENST00000324444.7:c.699G>A | ENSP00000316130.3:p.Trp233Ter | |
| ENST00000340477.9:c.360G>A | ENSP00000343152.5:p.Trp120Ter | |
| ENST00000397428.7:c.40-1154G>A | ENSP00000380572.3:n.40-1154G>A | |
| ENST00000465425.1:n.811G>A | ||
| ENST00000490730.1:c.688+11G>A | ENSP00000422716.1:n.688+11G>A | |
| ENST00000503121.5:c.242+1626G>A | ||
| ENST00000505054.2:n.395-1154G>A | ||
| NM_001039876.1:c.699G>A | NP_001034965.1:p.Trp233Ter | |
| NM_001039876.2:c.699G>A | NP_001034965.1:p.Trp233Ter | |
| NM_001297735.1:c.360G>A | NP_001284664.1:p.Trp120Ter | |
| NM_001297735.2:c.360G>A | NP_001284664.1:p.Trp120Ter | |
| XM_005258598.2:c.688+11G>A | XP_005258655.1:n.688+11G>A | |
| XM_005258601.2:c.618+159G>A | XP_005258658.1:n.618+159G>A | |
| XM_005258604.3:c.688+11G>A | XP_005258661.1:n.688+11G>A | |
| NM_001039876.3:c.699G>A MANE Select | NP_001034965.1:p.Trp233Ter | |
| NM_001297735.3:c.360G>A | NP_001284664.1:p.Trp120Ter |