Linked Data
ClinVar Variation Id:
2754668
ClinVar RCV Id:
RCV003510003
dbSNP Id:
rs1379990557
gnomAD v2:
12-12871268-C-G
gnomAD v4:
12-12718334-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12718334C>G , CM000674.2:g.12718334C>G | GRCh38 |
| NC_000012.11:g.12871268C>G , CM000674.1:g.12871268C>G | GRCh37 |
| NC_000012.10:g.12762535C>G | NCBI36 |
| NG_016341.1:g.5967C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614874.2:c.475+20C>G | ENSP00000507272.1:n.475+20C>G | |
| ENST00000682620.1:n.1631-491C>G | ||
| ENST00000684771.1:n.585-491C>G | ||
| ENST00000228872.9:c.475+20C>G MANE Select | ENSP00000228872.4:n.475+20C>G | |
| ENST00000228872.8:c.475+20C>G | ENSP00000228872.4:n.475+20C>G | |
| ENST00000396340.1:c.475+20C>G | ENSP00000379629.1:n.475+20C>G | |
| ENST00000442489.1:c.193+281C>G | ENSP00000407597.1:n.193+281C>G | |
| ENST00000477087.1:n.155-491C>G | ||
| NM_004064.4:c.475+20C>G | NP_004055.1:n.475+20C>G | |
| NM_004064.5:c.475+20C>G MANE Select | NP_004055.1:n.475+20C>G |