Linked Data
ClinVar Variation Id:
318731
dbSNP Id:
rs187163584
gnomAD v2:
16-28503528-G-C
gnomAD v3:
16-28492207-G-C
gnomAD v4:
16-28492207-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28492207G>C , CM000678.2:g.28492207G>C | GRCh38 |
| NC_000016.9:g.28503528G>C , CM000678.1:g.28503528G>C | GRCh37 |
| NC_000016.8:g.28411029G>C | NCBI36 |
| NG_008654.2:g.5096C>G , LRG_689:g.5096C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360019.8:c.-264C>G | ENSP00000353116.3:n.-264C>G | |
| ENST00000566083.6:n.42C>G | ||
| ENST00000569430.7:c.-264C>G | ENSP00000454229.1:n.-264C>G | |
| ENST00000636355.1:n.773C>G | ||
| ENST00000637107.1:c.-264C>G | ENSP00000490248.1:n.-264C>G | |
| ENST00000637110.1:n.373C>G | ||
| ENST00000360019.6:c.-264C>G | ENSP00000353116.2:n.-264C>G | |
| ENST00000563874.5:n.1091C>G | ||
| ENST00000566040.1:n.442C>G | ||
| ENST00000566472.1:n.493-12C>G | ||
| ENST00000567160.1:n.599C>G | ||
| ENST00000567804.1:c.-264C>G | ENSP00000455365.1:n.-264C>G | |
| ENST00000568443.1:c.-264C>G | ENSP00000454899.1:n.-264C>G | |
| ENST00000569430.5:c.-448C>G | ENSP00000454229.1:n.-448C>G | |
| NM_001042432.1:c.-264C>G , LRG_689t2:c.-264C>G | NP_001035897.1:n.-264C>G | |
| NM_001286104.1:c.-264C>G | NP_001273033.1:n.-264C>G |