Linked Data
ClinVar Variation Id:
536832
ClinVar RCV Id:
RCV000645509
dbSNP Id:
rs575418074
ExAC:
12:12871251 A / G
gnomAD v2:
12-12871251-A-G
gnomAD v3:
12-12718317-A-G
gnomAD v4:
12-12718317-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12718317A>G , CM000674.2:g.12718317A>G | GRCh38 |
| NC_000012.11:g.12871251A>G , CM000674.1:g.12871251A>G | GRCh37 |
| NC_000012.10:g.12762518A>G | NCBI36 |
| NG_016341.1:g.5950A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000614874.2:c.475+3A>G | ENSP00000507272.1:n.475+3A>G | |
| ENST00000682620.1:n.1631-508A>G | ||
| ENST00000684771.1:n.585-508A>G | ||
| ENST00000228872.9:c.475+3A>G MANE Select | ENSP00000228872.4:n.475+3A>G | |
| ENST00000228872.8:c.475+3A>G | ENSP00000228872.4:n.475+3A>G | |
| ENST00000396340.1:c.475+3A>G | ENSP00000379629.1:n.475+3A>G | |
| ENST00000442489.1:c.193+264A>G | ENSP00000407597.1:n.193+264A>G | |
| ENST00000477087.1:n.155-508A>G | ||
| NM_004064.4:c.475+3A>G | NP_004055.1:n.475+3A>G | |
| NM_004064.5:c.475+3A>G MANE Select | NP_004055.1:n.475+3A>G |