Linked Data
ClinVar Variation Id:
2977442
ClinVar RCV Id:
RCV003831560
dbSNP Id:
rs199810271
gnomAD v3:
12-7062523-C-G
gnomAD v4:
12-7062523-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.7062523C>G , CM000674.2:g.7062523C>G | GRCh38 |
| NC_000012.11:g.7169827C>G , CM000674.1:g.7169827C>G | GRCh37 |
| NC_000012.10:g.7040088C>G | NCBI36 |
| NG_011694.1:g.6848C>G , LRG_25:g.6848C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000473545.2:n.432C>G | ||
| ENST00000488701.2:n.364C>G | ||
| ENST00000495053.2:n.384C>G | ||
| ENST00000698563.1:n.390C>G | ||
| ENST00000698564.1:n.363C>G | ||
| ENST00000698565.1:n.583C>G | ||
| ENST00000360817.10:c.54C>G MANE Select | ENSP00000354057.5:p.Thr18= | |
| ENST00000328916.7:c.54C>G | ENSP00000328173.3:p.Thr18= | |
| ENST00000360817.9:c.54C>G | ENSP00000354057.5:p.Thr18= | |
| ENST00000402681.7:c.-288-367C>G | ENSP00000384171.3:n.-288-367C>G | |
| ENST00000403949.5:c.54C>G | ENSP00000384464.1:p.Thr18= | |
| ENST00000406697.5:c.54C>G | ENSP00000385035.1:p.Thr18= | |
| ENST00000413211.5:c.54C>G | ENSP00000406643.1:p.Thr18= | |
| ENST00000423384.5:c.54C>G | ENSP00000399892.1:p.Thr18= | |
| ENST00000443875.5:c.128C>G | ||
| ENST00000488701.1:n.349C>G | ||
| ENST00000541647.1:n.196-367C>G | ||
| ENST00000543187.5:n.281C>G | ||
| ENST00000617865.4:c.-1C>G | ENSP00000484657.1:n.-1C>G | |
| NM_001734.3:c.54C>G , LRG_25t1:c.54C>G | NP_001725.1:p.Thr18= | |
| NM_201442.2:c.54C>G | NP_958850.1:p.Thr18= | |
| XM_005253760.1:c.54C>G | XP_005253817.1:p.Thr18= | |
| NM_001346850.1:c.-288-367C>G | NP_001333779.1:n.-288-367C>G | |
| NM_001734.4:c.54C>G | NP_001725.1:p.Thr18= | |
| NM_201442.3:c.54C>G | NP_958850.1:p.Thr18= | |
| XM_005253760.2:c.54C>G | XP_005253817.1:p.Thr18= | |
| NM_001734.5:c.54C>G MANE Select | NP_001725.1:p.Thr18= | |
| NM_001346850.2:c.-288-367C>G | NP_001333779.1:n.-288-367C>G | |
| NM_201442.4:c.54C>G | NP_958850.1:p.Thr18= |