Linked Data
ClinVar Variation Id:
241242
ClinVar RCV Id:
RCV000230462
dbSNP Id:
rs770564150
ExAC:
17:78014007 G / A
gnomAD v2:
17-78014007-G-A
gnomAD v3:
17-80040208-G-A
gnomAD v4:
17-80040208-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80040208G>A , CM000679.2:g.80040208G>A | GRCh38 |
| NC_000017.10:g.78014007G>A , CM000679.1:g.78014007G>A | GRCh37 |
| NC_000017.9:g.75628602G>A | NCBI36 |
| NG_029761.1:g.8577G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397545.9:c.490G>A MANE Select | ENSP00000380679.4:p.Gly164Arg | |
| ENST00000269318.9:c.490G>A | ENSP00000269318.5:p.Gly164Arg | |
| ENST00000374876.4:c.490G>A | ENSP00000364010.4:p.Gly164Arg | |
| ENST00000374877.7:c.490G>A | ENSP00000364011.3:p.Gly164Arg | |
| ENST00000397545.8:c.490G>A | ENSP00000380679.4:p.Gly164Arg | |
| ENST00000572083.5:n.489G>A | ||
| ENST00000573474.5:c.36+168G>A | ||
| ENST00000576241.1:n.476G>A | ||
| NM_001243342.1:c.490G>A | NP_001230271.1:p.Gly164Arg | |
| NM_017950.3:c.490G>A | NP_060420.2:p.Gly164Arg | |
| XM_005257492.3:c.490G>A | XP_005257549.1:p.Gly164Arg | |
| XM_011524963.1:c.400G>A | XP_011523265.1:p.Gly134Arg | |
| XM_011524965.1:c.490G>A | XP_011523267.1:p.Gly164Arg | |
| XR_934495.1:n.521G>A | ||
| NM_001330508.1:c.490G>A | NP_001317437.1:p.Gly164Arg | |
| XM_011524963.3:c.400G>A | XP_011523265.1:p.Gly134Arg | |
| XM_011524965.3:c.490G>A | XP_011523267.1:p.Gly164Arg | |
| XM_017024807.1:c.490G>A | XP_016880296.1:p.Gly164Arg | |
| XM_024450821.1:c.400G>A | XP_024306589.1:p.Gly134Arg | |
| XR_001752550.2:n.521G>A | ||
| XR_934495.2:n.521G>A | ||
| NM_017950.4:c.490G>A MANE Select | NP_060420.2:p.Gly164Arg | |
| NM_001330508.2:c.490G>A | NP_001317437.1:p.Gly164Arg | |
| NM_001243342.2:c.490G>A | NP_001230271.1:p.Gly164Arg |