Linked Data
ClinVar Variation Id:
1093916
ClinVar RCV Id:
RCV001414229
dbSNP Id:
rs552334013
ExAC:
20:13782191 A / G
gnomAD v3:
20-13801545-A-G
gnomAD v4:
20-13801545-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.13801545A>G , CM000682.2:g.13801545A>G | GRCh38 |
| NC_000020.10:g.13782191A>G , CM000682.1:g.13782191A>G | GRCh37 |
| NC_000020.9:g.13730191A>G | NCBI36 |
| NG_015811.1:g.21520A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378106.10:c.579A>G MANE Select | ENSP00000367346.5:p.Thr193= | |
| ENST00000378081.9:c.579A>G | ENSP00000437325.1:p.Thr193= | |
| ENST00000378106.9:c.579A>G | ENSP00000367346.5:p.Thr193= | |
| ENST00000463598.1:c.495A>G | ENSP00000420497.1:p.Thr165= | |
| ENST00000464269.5:n.252A>G | ||
| ENST00000475968.5:n.456A>G | ||
| ENST00000476536.5:n.539A>G | ||
| ENST00000477732.5:n.502+3045A>G | ||
| ENST00000479716.5:n.100A>G | ||
| ENST00000481249.5:n.456A>G | ||
| ENST00000485738.5:n.556A>G | ||
| ENST00000487478.5:n.3A>G | ||
| NM_001039375.2:c.495A>G | NP_001034464.1:p.Thr165= | |
| NM_024120.4:c.579A>G | NP_077025.2:p.Thr193= | |
| NR_029377.1:n.622A>G | ||
| XM_006723620.2:c.579A>G | XP_006723683.1:p.Thr193= | |
| XM_006723622.2:c.108A>G | XP_006723685.1:p.Thr36= | |
| XM_006723623.1:c.108A>G | XP_006723686.1:p.Thr36= | |
| XM_006723624.1:c.108A>G | XP_006723687.1:p.Thr36= | |
| XM_011529341.1:c.579A>G | XP_011527643.1:p.Thr193= | |
| XM_011529342.1:c.579A>G | XP_011527644.1:p.Thr193= | |
| XM_011529343.1:c.579A>G | XP_011527645.1:p.Thr193= | |
| XM_011529344.1:c.210A>G | XP_011527646.1:p.Thr70= | |
| XR_430269.2:n.599A>G | ||
| XR_937140.1:n.599A>G | ||
| NM_001352403.1:c.108A>G | NP_001339332.1:p.Thr36= | |
| NM_001352406.1:c.18A>G | NP_001339335.1:p.Thr6= | |
| NM_001352407.1:c.18A>G | NP_001339336.1:p.Thr6= | |
| NM_001352408.1:c.579A>G | NP_001339337.1:p.Thr193= | |
| NR_147978.1:n.622A>G | ||
| NR_147979.1:n.642A>G | ||
| NR_147980.1:n.518A>G | ||
| NR_147981.1:n.756A>G | ||
| NR_147982.1:n.756A>G | ||
| NR_147983.1:n.672A>G | ||
| XM_006723624.2:c.108A>G | XP_006723687.1:p.Thr36= | |
| XM_011529342.2:c.579A>G | XP_011527644.1:p.Thr193= | |
| XM_024451999.1:c.108A>G | XP_024307767.1:p.Thr36= | |
| XR_001754396.1:n.538A>G | ||
| XR_430269.3:n.599A>G | ||
| XR_937140.2:n.599A>G | ||
| NM_024120.5:c.579A>G MANE Select | NP_077025.2:p.Thr193= | |
| NM_001039375.3:c.495A>G | NP_001034464.1:p.Thr165= | |
| NM_001352403.2:c.108A>G | NP_001339332.1:p.Thr36= | |
| NM_001352406.2:c.18A>G | NP_001339335.1:p.Thr6= | |
| NM_001352407.2:c.18A>G | NP_001339336.1:p.Thr6= | |
| NR_029377.2:n.620A>G | ||
| NR_147978.2:n.620A>G | ||
| NR_147979.2:n.640A>G | ||
| NR_147980.2:n.516A>G | ||
| NR_147981.2:n.754A>G | ||
| NR_147982.2:n.754A>G | ||
| NR_147983.2:n.670A>G | ||
| NM_001352408.2:c.579A>G | NP_001339337.1:p.Thr193= |