Linked Data
dbSNP Id:
rs1489310306
gnomAD v2:
20-62038716-C-G
gnomAD v3:
20-63407363-C-G
gnomAD v4:
20-63407363-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63407363C>G , CM000682.2:g.63407363C>G | GRCh38 |
| NC_000020.10:g.62038716C>G , CM000682.1:g.62038716C>G | GRCh37 |
| NC_000020.9:g.61509160C>G | NCBI36 |
| NG_009004.1:g.70278G>C | |
| NG_009004.2:g.70278G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706989.1:c.1954G>C | ENSP00000516702.1:p.Glu652Gln | |
| ENST00000359125.7:c.1900G>C MANE Select | ENSP00000352035.2:p.Glu634Gln | |
| ENST00000637193.1:c.1297G>C | ENSP00000490734.1:p.Glu433Gln | |
| ENST00000637338.1:n.57G>C | ||
| ENST00000344462.8:c.1807G>C | ENSP00000339611.4:p.Glu603Gln | |
| ENST00000357249.6:c.1468G>C | ENSP00000349789.3:p.Glu490Gln | |
| ENST00000359125.6:c.1900G>C | ENSP00000352035.2:p.Glu634Gln | |
| ENST00000360480.7:c.1816G>C | ENSP00000353668.3:p.Glu606Gln | |
| ENST00000370224.5:c.1924G>C | ENSP00000359244.2:p.Glu642Gln | |
| ENST00000625514.2:c.1888G>C | ENSP00000486040.1:p.Glu630Gln | |
| ENST00000626839.2:c.1846G>C | ENSP00000486706.1:p.Glu616Gln | |
| ENST00000629241.2:c.1816G>C | ENSP00000487142.1:p.Glu606Gln | |
| ENST00000629676.2:c.1679+6087G>C | ENSP00000486194.1:n.1679+6087G>C | |
| NM_004518.4:c.1816G>C | NP_004509.2:p.Glu606Gln | |
| NM_172106.1:c.1846G>C | NP_742104.1:p.Glu616Gln | |
| NM_172107.2:c.1900G>C | NP_742105.1:p.Glu634Gln | |
| NM_172108.3:c.1807G>C | NP_742106.1:p.Glu603Gln | |
| XM_006723787.1:c.1942G>C | XP_006723850.1:p.Glu648Gln | |
| XM_011528807.1:c.2008G>C | XP_011527109.1:p.Glu670Gln | |
| XM_011528808.1:c.2005G>C | XP_011527110.1:p.Glu669Gln | |
| XM_011528809.1:c.1978G>C | XP_011527111.1:p.Glu660Gln | |
| XM_011528810.1:c.1954G>C | XP_011527112.1:p.Glu652Gln | |
| XM_011528811.1:c.1924G>C | XP_011527113.1:p.Glu642Gln | |
| XM_011528812.1:c.1897G>C | XP_011527114.1:p.Glu633Gln | |
| XM_011528813.1:c.1882G>C | XP_011527115.1:p.Glu628Gln | |
| XM_011528814.1:c.1489G>C | XP_011527116.1:p.Glu497Gln | |
| NM_004518.5:c.1816G>C | NP_004509.2:p.Glu606Gln | |
| NM_172106.2:c.1846G>C | NP_742104.1:p.Glu616Gln | |
| NM_172107.3:c.1900G>C | NP_742105.1:p.Glu634Gln | |
| NM_172108.4:c.1807G>C | NP_742106.1:p.Glu603Gln | |
| XM_011528810.2:c.1954G>C | XP_011527112.1:p.Glu652Gln | |
| XM_011528811.2:c.1924G>C | XP_011527113.1:p.Glu642Gln | |
| XM_017027841.2:c.1951G>C | XP_016883330.1:p.Glu651Gln | |
| XM_017027842.2:c.1888G>C | XP_016883331.1:p.Glu630Gln | |
| XM_017027843.1:c.1885G>C | XP_016883332.1:p.Glu629Gln | |
| XM_017027844.2:c.1843G>C | XP_016883333.1:p.Glu615Gln | |
| XM_017027845.1:c.916G>C | XP_016883334.1:p.Glu306Gln | |
| NM_004518.6:c.1816G>C | NP_004509.2:p.Glu606Gln | |
| NM_172106.3:c.1846G>C | NP_742104.1:p.Glu616Gln | |
| NM_172107.4:c.1900G>C MANE Select | NP_742105.1:p.Glu634Gln | |
| NM_172108.5:c.1807G>C | NP_742106.1:p.Glu603Gln | |
| NM_001382235.1:c.1954G>C | NP_001369164.1:p.Glu652Gln |