Linked Data
dbSNP Id:
rs12904216
gnomAD v2:
15-48523267-A-G
gnomAD v3:
15-48231070-A-G
gnomAD v4:
15-48231070-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48231070A>G , CM000677.2:g.48231070A>G | GRCh38 |
| NC_000015.9:g.48523267A>G , CM000677.1:g.48523267A>G | GRCh37 |
| NC_000015.8:g.46310559A>G | NCBI36 |
| NG_021301.1:g.29770A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000686073.1:c.975+567A>G | ENSP00000508901.1:n.975+567A>G | |
| ENST00000380993.8:c.975+567A>G MANE Select | ENSP00000370381.3:n.975+567A>G | |
| ENST00000646012.1:c.1113+567A>G | ENSP00000495813.1:n.1113+567A>G | |
| ENST00000647232.1:c.975+567A>G | ENSP00000493875.1:n.975+567A>G | |
| ENST00000647546.1:c.975+567A>G | ENSP00000495332.1:n.975+567A>G | |
| ENST00000330289.10:c.975+567A>G | ENSP00000331550.6:n.975+567A>G | |
| ENST00000380993.7:c.975+567A>G | ENSP00000370381.3:n.975+567A>G | |
| ENST00000396577.7:c.975+567A>G | ENSP00000379822.3:n.975+567A>G | |
| ENST00000558252.5:n.5098+567A>G | ||
| ENST00000558405.5:c.975+567A>G | ENSP00000453409.1:n.975+567A>G | |
| ENST00000559641.5:c.414+567A>G | ENSP00000453230.1:n.414+567A>G | |
| ENST00000559723.2:n.348+567A>G | ||
| ENST00000560692.5:n.5114+567A>G | ||
| NM_000338.2:c.975+567A>G | NP_000329.2:n.975+567A>G | |
| NM_001184832.1:c.975+567A>G | NP_001171761.1:n.975+567A>G | |
| XM_005254605.1:c.1071+567A>G | XP_005254662.1:n.1071+567A>G | |
| XM_005254606.1:c.975+567A>G | XP_005254663.1:n.975+567A>G | |
| XM_006720656.1:c.1071+567A>G | XP_006720719.1:n.1071+567A>G | |
| XR_931896.1:n.1287+567A>G | ||
| XM_005254606.2:c.975+567A>G | XP_005254663.1:n.975+567A>G | |
| XR_001751533.1:n.246-232T>C | ||
| NM_000338.3:c.975+567A>G MANE Select | NP_000329.2:n.975+567A>G | |
| NM_001184832.2:c.975+567A>G | NP_001171761.1:n.975+567A>G | |
| NM_001384136.1:c.975+567A>G | NP_001371065.1:n.975+567A>G |