Linked Data
ClinVar Variation Id:
228326
ClinVar RCV Id:
RCV000221299
dbSNP Id:
rs750708201
ExAC:
17:78023861 A / G
gnomAD v2:
17-78023861-A-G
gnomAD v3:
17-80050062-A-G
gnomAD v4:
17-80050062-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80050062A>G , CM000679.2:g.80050062A>G | GRCh38 |
| NC_000017.10:g.78023861A>G , CM000679.1:g.78023861A>G | GRCh37 |
| NC_000017.9:g.75638456A>G | NCBI36 |
| NG_029761.1:g.18431A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397545.9:c.940-2A>G MANE Select | ENSP00000380679.4:n.940-2A>G | |
| ENST00000269318.9:c.940-2A>G | ENSP00000269318.5:n.940-2A>G | |
| ENST00000374876.4:c.940-2A>G | ENSP00000364010.4:n.940-2A>G | |
| ENST00000374877.7:c.940-2A>G | ENSP00000364011.3:n.940-2A>G | |
| ENST00000397545.8:c.940-2A>G | ENSP00000380679.4:n.940-2A>G | |
| ENST00000573474.5:c.394-2A>G | ||
| ENST00000574799.5:n.477-2A>G | ||
| NM_001243342.1:c.940-2A>G | NP_001230271.1:n.940-2A>G | |
| NM_017950.3:c.940-2A>G | NP_060420.2:n.940-2A>G | |
| XM_005257492.3:c.940-2A>G | XP_005257549.1:n.940-2A>G | |
| XM_011524963.1:c.850-2A>G | XP_011523265.1:n.850-2A>G | |
| XM_011524965.1:c.940-2A>G | XP_011523267.1:n.940-2A>G | |
| XR_934495.1:n.971-2A>G | ||
| NM_001330508.1:c.940-2A>G | NP_001317437.1:n.940-2A>G | |
| XM_011524963.3:c.850-2A>G | XP_011523265.1:n.850-2A>G | |
| XM_011524965.3:c.940-2A>G | XP_011523267.1:n.940-2A>G | |
| XM_017024807.1:c.940-2A>G | XP_016880296.1:n.940-2A>G | |
| XM_024450821.1:c.850-2A>G | XP_024306589.1:n.850-2A>G | |
| XR_001752550.2:n.971-2A>G | ||
| XR_934495.2:n.971-2A>G | ||
| NM_017950.4:c.940-2A>G MANE Select | NP_060420.2:n.940-2A>G | |
| NM_001330508.2:c.940-2A>G | NP_001317437.1:n.940-2A>G | |
| NM_001243342.2:c.940-2A>G | NP_001230271.1:n.940-2A>G |