Linked Data
ClinVar Variation Id:
1507546
ClinVar RCV Id:
RCV002048100
dbSNP Id:
rs1245262343
gnomAD v3:
20-63407295-C-G
gnomAD v4:
20-63407295-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63407295C>G , CM000682.2:g.63407295C>G | GRCh38 |
| NC_000020.10:g.62038648C>G , CM000682.1:g.62038648C>G | GRCh37 |
| NC_000020.9:g.61509092C>G | NCBI36 |
| NG_009004.1:g.70346G>C | |
| NG_009004.2:g.70346G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706989.1:c.2022G>C | ENSP00000516702.1:p.Glu674Asp | |
| ENST00000359125.7:c.1968G>C MANE Select | ENSP00000352035.2:p.Glu656Asp | |
| ENST00000637193.1:c.1365G>C | ENSP00000490734.1:p.Glu455Asp | |
| ENST00000344462.8:c.1875G>C | ENSP00000339611.4:p.Glu625Asp | |
| ENST00000357249.6:c.1536G>C | ENSP00000349789.3:p.Glu512Asp | |
| ENST00000359125.6:c.1968G>C | ENSP00000352035.2:p.Glu656Asp | |
| ENST00000360480.7:c.1884G>C | ENSP00000353668.3:p.Glu628Asp | |
| ENST00000370224.5:c.1992G>C | ENSP00000359244.2:p.Glu664Asp | |
| ENST00000625514.2:c.1956G>C | ENSP00000486040.1:p.Glu652Asp | |
| ENST00000626839.2:c.1914G>C | ENSP00000486706.1:p.Glu638Asp | |
| ENST00000629241.2:c.1884G>C | ENSP00000487142.1:p.Glu628Asp | |
| ENST00000629676.2:c.1679+6155G>C | ENSP00000486194.1:n.1679+6155G>C | |
| NM_004518.4:c.1884G>C | NP_004509.2:p.Glu628Asp | |
| NM_172106.1:c.1914G>C | NP_742104.1:p.Glu638Asp | |
| NM_172107.2:c.1968G>C | NP_742105.1:p.Glu656Asp | |
| NM_172108.3:c.1875G>C | NP_742106.1:p.Glu625Asp | |
| XM_006723787.1:c.2010G>C | XP_006723850.1:p.Glu670Asp | |
| XM_011528807.1:c.2076G>C | XP_011527109.1:p.Glu692Asp | |
| XM_011528808.1:c.2073G>C | XP_011527110.1:p.Glu691Asp | |
| XM_011528809.1:c.2046G>C | XP_011527111.1:p.Glu682Asp | |
| XM_011528810.1:c.2022G>C | XP_011527112.1:p.Glu674Asp | |
| XM_011528811.1:c.1992G>C | XP_011527113.1:p.Glu664Asp | |
| XM_011528812.1:c.1965G>C | XP_011527114.1:p.Glu655Asp | |
| XM_011528813.1:c.1950G>C | XP_011527115.1:p.Glu650Asp | |
| XM_011528814.1:c.1557G>C | XP_011527116.1:p.Glu519Asp | |
| NM_004518.5:c.1884G>C | NP_004509.2:p.Glu628Asp | |
| NM_172106.2:c.1914G>C | NP_742104.1:p.Glu638Asp | |
| NM_172107.3:c.1968G>C | NP_742105.1:p.Glu656Asp | |
| NM_172108.4:c.1875G>C | NP_742106.1:p.Glu625Asp | |
| XM_011528810.2:c.2022G>C | XP_011527112.1:p.Glu674Asp | |
| XM_011528811.2:c.1992G>C | XP_011527113.1:p.Glu664Asp | |
| XM_017027841.2:c.2019G>C | XP_016883330.1:p.Glu673Asp | |
| XM_017027842.2:c.1956G>C | XP_016883331.1:p.Glu652Asp | |
| XM_017027843.1:c.1953G>C | XP_016883332.1:p.Glu651Asp | |
| XM_017027844.2:c.1911G>C | XP_016883333.1:p.Glu637Asp | |
| XM_017027845.1:c.984G>C | XP_016883334.1:p.Glu328Asp | |
| NM_004518.6:c.1884G>C | NP_004509.2:p.Glu628Asp | |
| NM_172106.3:c.1914G>C | NP_742104.1:p.Glu638Asp | |
| NM_172107.4:c.1968G>C MANE Select | NP_742105.1:p.Glu656Asp | |
| NM_172108.5:c.1875G>C | NP_742106.1:p.Glu625Asp | |
| NM_001382235.1:c.2022G>C | NP_001369164.1:p.Glu674Asp |