Linked Data
dbSNP Id:
rs529300249
gnomAD v2:
20-3652549-C-T
gnomAD v3:
20-3671902-C-T
gnomAD v4:
20-3671902-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3671902C>T , CM000682.2:g.3671902C>T | GRCh38 |
| NC_000020.10:g.3652549C>T , CM000682.1:g.3652549C>T | GRCh37 |
| NC_000020.9:g.3600549C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356518.7:c.1681G>A MANE Select | ENSP00000348912.3:p.Gly561Ser | |
| ENST00000350009.6:c.1681G>A | ENSP00000322550.5:p.Gly561Ser | |
| ENST00000356518.6:c.1681G>A | ENSP00000348912.2:p.Gly561Ser | |
| ENST00000379861.8:c.1681G>A | ENSP00000369190.4:p.Gly561Ser | |
| ENST00000466620.5:n.1320G>A | ||
| ENST00000617732.1:c.*632-445G>A | ENSP00000483343.1:n.*632-445G>A | |
| ENST00000619289.4:c.1321G>A | ENSP00000484600.1:p.Gly441Ser | |
| NM_001282447.1:c.1681G>A | NP_001269376.1:p.Gly561Ser | |
| NM_025220.3:c.1681G>A | NP_079496.1:p.Gly561Ser | |
| NM_153202.2:c.1681G>A | NP_694882.1:p.Gly561Ser | |
| XM_005260843.1:c.1720G>A | XP_005260900.1:p.Gly574Ser | |
| XM_006723639.1:c.1720G>A | XP_006723702.1:p.Gly574Ser | |
| XM_006723640.1:c.1711G>A | XP_006723703.1:p.Gly571Ser | |
| XM_011529366.1:c.1717G>A | XP_011527668.1:p.Gly573Ser | |
| XM_011529367.1:c.1678G>A | XP_011527669.1:p.Gly560Ser | |
| XM_011529368.1:c.1720G>A | XP_011527670.1:p.Gly574Ser | |
| XM_011529369.1:c.1688G>A | XP_011527671.1:p.Gly563Glu | |
| XM_011529370.1:c.1688G>A | XP_011527672.1:p.Gly563Glu | |
| XM_011529373.1:c.718G>A | XP_011527675.1:p.Gly240Ser | |
| XR_937151.1:n.1824G>A | ||
| XR_937152.1:n.1824G>A | ||
| XR_937153.1:n.1705G>A | ||
| XR_937154.1:n.1705G>A | ||
| XR_937155.1:n.1626G>A | ||
| XR_937157.1:n.1628G>A | ||
| NM_001282447.2:c.1681G>A | NP_001269376.1:p.Gly561Ser | |
| NM_025220.4:c.1681G>A | NP_079496.1:p.Gly561Ser | |
| NM_153202.3:c.1681G>A | NP_694882.1:p.Gly561Ser | |
| XM_011529373.2:c.718G>A | XP_011527675.1:p.Gly240Ser | |
| XR_001754405.1:n.1792G>A | ||
| XR_002958534.1:n.1901G>A | ||
| NM_001282447.3:c.1681G>A | NP_001269376.1:p.Gly561Ser | |
| NM_025220.5:c.1681G>A MANE Select | NP_079496.1:p.Gly561Ser | |
| NM_153202.4:c.1681G>A | NP_694882.1:p.Gly561Ser |