Linked Data
ClinVar Variation Id:
17068
ClinVar RCV Id:
RCV000994838
dbSNP Id:
rs121909582
ExAC:
12:7177488 C / T
gnomAD v2:
12-7177488-C-T
gnomAD v3:
12-7070184-C-T
gnomAD v4:
12-7070184-C-T
PubMed:
PMID:11390518
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.7070184C>T , CM000674.2:g.7070184C>T | GRCh38 |
| NC_000012.11:g.7177488C>T , CM000674.1:g.7177488C>T | GRCh37 |
| NC_000012.10:g.7047749C>T | NCBI36 |
| NG_011694.1:g.14509C>T , LRG_25:g.14509C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000473545.2:n.4336C>T | ||
| ENST00000488701.2:n.2117C>T | ||
| ENST00000495053.2:n.3676C>T | ||
| ENST00000698563.1:n.4979C>T | ||
| ENST00000698564.1:n.3426C>T | ||
| ENST00000698565.1:n.3535C>T | ||
| ENST00000360817.10:c.1600C>T MANE Select | ENSP00000354057.5:p.Arg534Trp | |
| ENST00000328916.7:c.1600C>T | ENSP00000328173.3:p.Arg534Trp | |
| ENST00000360817.9:c.1600C>T | ENSP00000354057.5:p.Arg534Trp | |
| ENST00000402681.7:c.1099C>T | ENSP00000384171.3:p.Arg367Trp | |
| ENST00000406697.5:c.1600C>T | ENSP00000385035.1:p.Arg534Trp | |
| ENST00000443875.5:c.1704C>T | ||
| ENST00000495061.5:n.776C>T | ||
| ENST00000617865.4:c.1582C>T | ENSP00000484657.1:p.Arg528Trp | |
| NM_001734.3:c.1600C>T , LRG_25t1:c.1600C>T | NP_001725.1:p.Arg534Trp | |
| NM_201442.2:c.1600C>T | NP_958850.1:p.Arg534Trp | |
| XM_005253760.1:c.1600C>T | XP_005253817.1:p.Arg534Trp | |
| NM_001346850.1:c.1099C>T | NP_001333779.1:p.Arg367Trp | |
| NM_001734.4:c.1600C>T | NP_001725.1:p.Arg534Trp | |
| NM_201442.3:c.1600C>T | NP_958850.1:p.Arg534Trp | |
| XM_005253760.2:c.1600C>T | XP_005253817.1:p.Arg534Trp | |
| NM_001734.5:c.1600C>T MANE Select | NP_001725.1:p.Arg534Trp | |
| NM_001346850.2:c.1099C>T | NP_001333779.1:p.Arg367Trp | |
| NM_201442.4:c.1600C>T | NP_958850.1:p.Arg534Trp |