Linked Data
ClinVar Variation Id:
698282
ClinVar RCV Id:
RCV001500456
dbSNP Id:
rs563758575
ExAC:
20:62038657 T / C
gnomAD v2:
20-62038657-T-C
gnomAD v3:
20-63407304-T-C
gnomAD v4:
20-63407304-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63407304T>C , CM000682.2:g.63407304T>C | GRCh38 |
| NC_000020.10:g.62038657T>C , CM000682.1:g.62038657T>C | GRCh37 |
| NC_000020.9:g.61509101T>C | NCBI36 |
| NG_009004.1:g.70337A>G | |
| NG_009004.2:g.70337A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706989.1:c.2013A>G | ENSP00000516702.1:p.Thr671= | |
| ENST00000359125.7:c.1959A>G MANE Select | ENSP00000352035.2:p.Thr653= | |
| ENST00000637193.1:c.1356A>G | ENSP00000490734.1:p.Thr452= | |
| ENST00000344462.8:c.1866A>G | ENSP00000339611.4:p.Thr622= | |
| ENST00000357249.6:c.1527A>G | ENSP00000349789.3:p.Thr509= | |
| ENST00000359125.6:c.1959A>G | ENSP00000352035.2:p.Thr653= | |
| ENST00000360480.7:c.1875A>G | ENSP00000353668.3:p.Thr625= | |
| ENST00000370224.5:c.1983A>G | ENSP00000359244.2:p.Thr661= | |
| ENST00000625514.2:c.1947A>G | ENSP00000486040.1:p.Thr649= | |
| ENST00000626839.2:c.1905A>G | ENSP00000486706.1:p.Thr635= | |
| ENST00000629241.2:c.1875A>G | ENSP00000487142.1:p.Thr625= | |
| ENST00000629676.2:c.1679+6146A>G | ENSP00000486194.1:n.1679+6146A>G | |
| NM_004518.4:c.1875A>G | NP_004509.2:p.Thr625= | |
| NM_172106.1:c.1905A>G | NP_742104.1:p.Thr635= | |
| NM_172107.2:c.1959A>G | NP_742105.1:p.Thr653= | |
| NM_172108.3:c.1866A>G | NP_742106.1:p.Thr622= | |
| XM_006723787.1:c.2001A>G | XP_006723850.1:p.Thr667= | |
| XM_011528807.1:c.2067A>G | XP_011527109.1:p.Thr689= | |
| XM_011528808.1:c.2064A>G | XP_011527110.1:p.Thr688= | |
| XM_011528809.1:c.2037A>G | XP_011527111.1:p.Thr679= | |
| XM_011528810.1:c.2013A>G | XP_011527112.1:p.Thr671= | |
| XM_011528811.1:c.1983A>G | XP_011527113.1:p.Thr661= | |
| XM_011528812.1:c.1956A>G | XP_011527114.1:p.Thr652= | |
| XM_011528813.1:c.1941A>G | XP_011527115.1:p.Thr647= | |
| XM_011528814.1:c.1548A>G | XP_011527116.1:p.Thr516= | |
| NM_004518.5:c.1875A>G | NP_004509.2:p.Thr625= | |
| NM_172106.2:c.1905A>G | NP_742104.1:p.Thr635= | |
| NM_172107.3:c.1959A>G | NP_742105.1:p.Thr653= | |
| NM_172108.4:c.1866A>G | NP_742106.1:p.Thr622= | |
| XM_011528810.2:c.2013A>G | XP_011527112.1:p.Thr671= | |
| XM_011528811.2:c.1983A>G | XP_011527113.1:p.Thr661= | |
| XM_017027841.2:c.2010A>G | XP_016883330.1:p.Thr670= | |
| XM_017027842.2:c.1947A>G | XP_016883331.1:p.Thr649= | |
| XM_017027843.1:c.1944A>G | XP_016883332.1:p.Thr648= | |
| XM_017027844.2:c.1902A>G | XP_016883333.1:p.Thr634= | |
| XM_017027845.1:c.975A>G | XP_016883334.1:p.Thr325= | |
| NM_004518.6:c.1875A>G | NP_004509.2:p.Thr625= | |
| NM_172106.3:c.1905A>G | NP_742104.1:p.Thr635= | |
| NM_172107.4:c.1959A>G MANE Select | NP_742105.1:p.Thr653= | |
| NM_172108.5:c.1866A>G | NP_742106.1:p.Thr622= | |
| NM_001382235.1:c.2013A>G | NP_001369164.1:p.Thr671= |