Linked Data
dbSNP Id:
rs759331437
ExAC:
20:3652552 C / T
gnomAD v2:
20-3652552-C-T
gnomAD v4:
20-3671905-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3671905C>T , CM000682.2:g.3671905C>T | GRCh38 |
| NC_000020.10:g.3652552C>T , CM000682.1:g.3652552C>T | GRCh37 |
| NC_000020.9:g.3600552C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356518.7:c.1678G>A MANE Select | ENSP00000348912.3:p.Glu560Lys | |
| ENST00000350009.6:c.1678G>A | ENSP00000322550.5:p.Glu560Lys | |
| ENST00000356518.6:c.1678G>A | ENSP00000348912.2:p.Glu560Lys | |
| ENST00000379861.8:c.1678G>A | ENSP00000369190.4:p.Glu560Lys | |
| ENST00000466620.5:n.1317G>A | ||
| ENST00000617732.1:c.*632-448G>A | ENSP00000483343.1:n.*632-448G>A | |
| ENST00000619289.4:c.1318G>A | ENSP00000484600.1:p.Glu440Lys | |
| NM_001282447.1:c.1678G>A | NP_001269376.1:p.Glu560Lys | |
| NM_025220.3:c.1678G>A | NP_079496.1:p.Glu560Lys | |
| NM_153202.2:c.1678G>A | NP_694882.1:p.Glu560Lys | |
| XM_005260843.1:c.1717G>A | XP_005260900.1:p.Glu573Lys | |
| XM_006723639.1:c.1717G>A | XP_006723702.1:p.Glu573Lys | |
| XM_006723640.1:c.1708G>A | XP_006723703.1:p.Glu570Lys | |
| XM_011529366.1:c.1714G>A | XP_011527668.1:p.Glu572Lys | |
| XM_011529367.1:c.1675G>A | XP_011527669.1:p.Glu559Lys | |
| XM_011529368.1:c.1717G>A | XP_011527670.1:p.Glu573Lys | |
| XM_011529369.1:c.1685G>A | XP_011527671.1:p.Arg562Gln | |
| XM_011529370.1:c.1685G>A | XP_011527672.1:p.Arg562Gln | |
| XM_011529373.1:c.715G>A | XP_011527675.1:p.Glu239Lys | |
| XR_937151.1:n.1821G>A | ||
| XR_937152.1:n.1821G>A | ||
| XR_937153.1:n.1702G>A | ||
| XR_937154.1:n.1702G>A | ||
| XR_937155.1:n.1623G>A | ||
| XR_937157.1:n.1625G>A | ||
| NM_001282447.2:c.1678G>A | NP_001269376.1:p.Glu560Lys | |
| NM_025220.4:c.1678G>A | NP_079496.1:p.Glu560Lys | |
| NM_153202.3:c.1678G>A | NP_694882.1:p.Glu560Lys | |
| XM_011529373.2:c.715G>A | XP_011527675.1:p.Glu239Lys | |
| XR_001754405.1:n.1789G>A | ||
| XR_002958534.1:n.1898G>A | ||
| NM_001282447.3:c.1678G>A | NP_001269376.1:p.Glu560Lys | |
| NM_025220.5:c.1678G>A MANE Select | NP_079496.1:p.Glu560Lys | |
| NM_153202.4:c.1678G>A | NP_694882.1:p.Glu560Lys |