Linked Data
ClinVar Variation Id:
260973
dbSNP Id:
rs375586063
ExAC:
17:78013901 A / G
gnomAD v2:
17-78013901-A-G
gnomAD v3:
17-80040102-A-G
gnomAD v4:
17-80040102-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80040102A>G , CM000679.2:g.80040102A>G | GRCh38 |
| NC_000017.10:g.78013901A>G , CM000679.1:g.78013901A>G | GRCh37 |
| NC_000017.9:g.75628496A>G | NCBI36 |
| NG_029761.1:g.8471A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397545.9:c.384A>G MANE Select | ENSP00000380679.4:p.Ala128= | |
| ENST00000269318.9:c.384A>G | ENSP00000269318.5:p.Ala128= | |
| ENST00000374876.4:c.384A>G | ENSP00000364010.4:p.Ala128= | |
| ENST00000374877.7:c.384A>G | ENSP00000364011.3:p.Ala128= | |
| ENST00000397545.8:c.384A>G | ENSP00000380679.4:p.Ala128= | |
| ENST00000572083.5:n.383A>G | ||
| ENST00000572270.1:n.397A>G | ||
| ENST00000573474.5:c.36+62A>G | ||
| ENST00000574099.1:c.294A>G | ENSP00000460002.1:p.Ala98= | |
| ENST00000576033.5:c.294A>G | ENSP00000459489.1:p.Ala98= | |
| ENST00000576241.1:n.370A>G | ||
| NM_001243342.1:c.384A>G | NP_001230271.1:p.Ala128= | |
| NM_017950.3:c.384A>G | NP_060420.2:p.Ala128= | |
| XM_005257492.3:c.384A>G | XP_005257549.1:p.Ala128= | |
| XM_011524963.1:c.294A>G | XP_011523265.1:p.Ala98= | |
| XM_011524965.1:c.384A>G | XP_011523267.1:p.Ala128= | |
| XR_934495.1:n.415A>G | ||
| NM_001330508.1:c.384A>G | NP_001317437.1:p.Ala128= | |
| XM_011524963.3:c.294A>G | XP_011523265.1:p.Ala98= | |
| XM_011524965.3:c.384A>G | XP_011523267.1:p.Ala128= | |
| XM_017024807.1:c.384A>G | XP_016880296.1:p.Ala128= | |
| XM_024450821.1:c.294A>G | XP_024306589.1:p.Ala98= | |
| XR_001752550.2:n.415A>G | ||
| XR_934495.2:n.415A>G | ||
| NM_017950.4:c.384A>G MANE Select | NP_060420.2:p.Ala128= | |
| NM_001330508.2:c.384A>G | NP_001317437.1:p.Ala128= | |
| NM_001243342.2:c.384A>G | NP_001230271.1:p.Ala128= |