Linked Data
ClinVar Variation Id:
1930389
ClinVar RCV Id:
RCV002626808
dbSNP Id:
rs781784104
gnomAD v4:
12-6843096-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6843096C>A , CM000674.2:g.6843096C>A | GRCh38 |
| NC_000012.11:g.6952260C>A , CM000674.1:g.6952260C>A | GRCh37 |
| NC_000012.10:g.6822521C>A | NCBI36 |
| NG_009100.1:g.7886C>A | |
| NG_009100.2:g.7886C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229264.8:c.203+20C>A MANE Select | ENSP00000229264.3:n.203+20C>A | |
| ENST00000229264.7:c.203+20C>A | ENSP00000229264.3:n.203+20C>A | |
| ENST00000435982.6:c.203+20C>A | ENSP00000414734.2:n.203+20C>A | |
| ENST00000537035.1:c.203+20C>A | ENSP00000445967.1:n.203+20C>A | |
| ENST00000539127.5:c.*223+20C>A | ENSP00000444325.1:n.*223+20C>A | |
| ENST00000540458.5:n.1554+20C>A | ||
| ENST00000541257.5:c.203+20C>A | ENSP00000442002.1:n.203+20C>A | |
| ENST00000541978.5:c.203+20C>A | ENSP00000439753.2:n.203+20C>A | |
| NM_001297571.1:c.203+20C>A | NP_001284500.1:n.203+20C>A | |
| NM_002075.3:c.203+20C>A | NP_002066.1:n.203+20C>A | |
| XM_011520953.1:c.203+20C>A | XP_011519255.1:n.203+20C>A | |
| XM_011520954.1:c.203+20C>A | XP_011519256.1:n.203+20C>A | |
| XM_011520953.3:c.203+20C>A | XP_011519255.1:n.203+20C>A | |
| NM_001297571.2:c.203+20C>A | NP_001284500.1:n.203+20C>A | |
| NM_002075.4:c.203+20C>A MANE Select | NP_002066.1:n.203+20C>A |