Linked Data
dbSNP Id:
rs1439622104
gnomAD v2:
16-55690228-A-G
gnomAD v3:
16-55656316-A-G
gnomAD v4:
16-55656316-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.55656316A>G , CM000678.2:g.55656316A>G | GRCh38 |
| NC_000016.9:g.55690228A>G , CM000678.1:g.55690228A>G | GRCh37 |
| NC_000016.8:g.54247729A>G | NCBI36 |
| NG_016969.1:g.5687A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000219833.13:c.-379A>G | ENSP00000219833.8:n.-379A>G | |
| ENST00000568943.6:c.-52+147A>G MANE Select | ENSP00000457473.1:n.-52+147A>G | |
| ENST00000574918.2:c.-88A>G | ENSP00000460214.2:n.-88A>G | |
| ENST00000682050.1:c.-88A>G | ENSP00000508367.1:n.-88A>G | |
| ENST00000414754.7:c.-52+147A>G | ENSP00000394956.3:n.-52+147A>G | |
| ENST00000568529.6:c.-52+147A>G | ENSP00000456377.2:n.-52+147A>G | |
| ENST00000568655.5:c.-88A>G | ENSP00000454603.1:n.-88A>G | |
| ENST00000568943.5:c.-52+147A>G | ENSP00000457473.1:n.-52+147A>G | |
| NM_001172501.1:c.-52+147A>G | NP_001165972.1:n.-52+147A>G | |
| XM_006721263.2:c.-88A>G | XP_006721326.1:n.-88A>G | |
| XM_011523295.1:c.-52+147A>G | XP_011521597.1:n.-52+147A>G | |
| XM_011523296.1:c.-52+147A>G | XP_011521598.1:n.-52+147A>G | |
| XM_011523297.1:c.-52+147A>G | XP_011521599.1:n.-52+147A>G | |
| XM_011523298.1:c.-52+147A>G | XP_011521600.1:n.-52+147A>G | |
| XR_933403.1:n.566+147A>G | ||
| XM_011523295.2:c.-52+147A>G | XP_011521597.1:n.-52+147A>G | |
| XM_011523296.2:c.-52+147A>G | XP_011521598.1:n.-52+147A>G | |
| XM_011523297.3:c.-52+147A>G | XP_011521599.1:n.-52+147A>G | |
| XM_011523298.2:c.-52+147A>G | XP_011521600.1:n.-52+147A>G | |
| XR_933403.3:n.242+147A>G | ||
| NM_001172501.2:c.-52+147A>G | NP_001165972.1:n.-52+147A>G | |
| NM_001172501.3:c.-52+147A>G MANE Select | NP_001165972.1:n.-52+147A>G |