Linked Data
ClinVar Variation Id:
2719254
ClinVar RCV Id:
RCV003590775
dbSNP Id:
rs200124638
gnomAD v2:
20-62038670-C-T
gnomAD v4:
20-63407317-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63407317C>T , CM000682.2:g.63407317C>T | GRCh38 |
| NC_000020.10:g.62038670C>T , CM000682.1:g.62038670C>T | GRCh37 |
| NC_000020.9:g.61509114C>T | NCBI36 |
| NG_009004.1:g.70324G>A | |
| NG_009004.2:g.70324G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706989.1:c.2000G>A | ENSP00000516702.1:p.Gly667Asp | |
| ENST00000359125.7:c.1946G>A MANE Select | ENSP00000352035.2:p.Gly649Asp | |
| ENST00000637193.1:c.1343G>A | ENSP00000490734.1:p.Gly448Asp | |
| ENST00000344462.8:c.1853G>A | ENSP00000339611.4:p.Gly618Asp | |
| ENST00000357249.6:c.1514G>A | ENSP00000349789.3:p.Gly505Asp | |
| ENST00000359125.6:c.1946G>A | ENSP00000352035.2:p.Gly649Asp | |
| ENST00000360480.7:c.1862G>A | ENSP00000353668.3:p.Gly621Asp | |
| ENST00000370224.5:c.1970G>A | ENSP00000359244.2:p.Gly657Asp | |
| ENST00000625514.2:c.1934G>A | ENSP00000486040.1:p.Gly645Asp | |
| ENST00000626839.2:c.1892G>A | ENSP00000486706.1:p.Gly631Asp | |
| ENST00000629241.2:c.1862G>A | ENSP00000487142.1:p.Gly621Asp | |
| ENST00000629676.2:c.1679+6133G>A | ENSP00000486194.1:n.1679+6133G>A | |
| NM_004518.4:c.1862G>A | NP_004509.2:p.Gly621Asp | |
| NM_172106.1:c.1892G>A | NP_742104.1:p.Gly631Asp | |
| NM_172107.2:c.1946G>A | NP_742105.1:p.Gly649Asp | |
| NM_172108.3:c.1853G>A | NP_742106.1:p.Gly618Asp | |
| XM_006723787.1:c.1988G>A | XP_006723850.1:p.Gly663Asp | |
| XM_011528807.1:c.2054G>A | XP_011527109.1:p.Gly685Asp | |
| XM_011528808.1:c.2051G>A | XP_011527110.1:p.Gly684Asp | |
| XM_011528809.1:c.2024G>A | XP_011527111.1:p.Gly675Asp | |
| XM_011528810.1:c.2000G>A | XP_011527112.1:p.Gly667Asp | |
| XM_011528811.1:c.1970G>A | XP_011527113.1:p.Gly657Asp | |
| XM_011528812.1:c.1943G>A | XP_011527114.1:p.Gly648Asp | |
| XM_011528813.1:c.1928G>A | XP_011527115.1:p.Gly643Asp | |
| XM_011528814.1:c.1535G>A | XP_011527116.1:p.Gly512Asp | |
| NM_004518.5:c.1862G>A | NP_004509.2:p.Gly621Asp | |
| NM_172106.2:c.1892G>A | NP_742104.1:p.Gly631Asp | |
| NM_172107.3:c.1946G>A | NP_742105.1:p.Gly649Asp | |
| NM_172108.4:c.1853G>A | NP_742106.1:p.Gly618Asp | |
| XM_011528810.2:c.2000G>A | XP_011527112.1:p.Gly667Asp | |
| XM_011528811.2:c.1970G>A | XP_011527113.1:p.Gly657Asp | |
| XM_017027841.2:c.1997G>A | XP_016883330.1:p.Gly666Asp | |
| XM_017027842.2:c.1934G>A | XP_016883331.1:p.Gly645Asp | |
| XM_017027843.1:c.1931G>A | XP_016883332.1:p.Gly644Asp | |
| XM_017027844.2:c.1889G>A | XP_016883333.1:p.Gly630Asp | |
| XM_017027845.1:c.962G>A | XP_016883334.1:p.Gly321Asp | |
| NM_004518.6:c.1862G>A | NP_004509.2:p.Gly621Asp | |
| NM_172106.3:c.1892G>A | NP_742104.1:p.Gly631Asp | |
| NM_172107.4:c.1946G>A MANE Select | NP_742105.1:p.Gly649Asp | |
| NM_172108.5:c.1853G>A | NP_742106.1:p.Gly618Asp | |
| NM_001382235.1:c.2000G>A | NP_001369164.1:p.Gly667Asp |