Linked Data
ClinVar Variation Id:
229330
ClinVar RCV Id:
RCV000218638
RCV001133665
RCV001133666
RCV001133667
RCV001133668
RCV001190732
RCV002518212
dbSNP Id:
rs779144176
ExAC:
19:55668027 T / C
gnomAD v2:
19-55668027-T-C
gnomAD v4:
19-55156659-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55156659T>C , CM000681.2:g.55156659T>C | GRCh38 |
| NC_000019.9:g.55668027T>C , CM000681.1:g.55668027T>C | GRCh37 |
| NC_000019.8:g.60359839T>C | NCBI36 |
| NG_007866.2:g.6074A>G , LRG_432:g.6074A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.109-15A>G MANE Select | ENSP00000341838.5:n.109-15A>G | |
| ENST00000665070.1:c.109-15A>G | ENSP00000499482.1:n.109-15A>G | |
| ENST00000344887.9:c.109-15A>G | ENSP00000341838.5:n.109-15A>G | |
| ENST00000586669.5:n.117-15A>G | ||
| ENST00000586858.1:c.19A>G | ENSP00000465258.1:p.Ile7Val | |
| ENST00000587176.5:n.293-15A>G | ||
| ENST00000587871.1:c.728-15A>G | ||
| ENST00000588882.1:c.19A>G | ENSP00000466729.1:p.Ile7Val | |
| ENST00000590463.1:n.281-15A>G | ||
| NM_000363.4:c.109-15A>G , LRG_432t1:c.109-15A>G | NP_000354.4:n.109-15A>G | |
| NM_000363.5:c.109-15A>G MANE Select | NP_000354.4:n.109-15A>G |