Linked Data
ClinVar Variation Id:
2373583
ClinVar RCV Id:
RCV004210579
dbSNP Id:
rs765009386
ExAC:
20:3652554 C / A
gnomAD v2:
20-3652554-C-A
gnomAD v3:
20-3671907-C-A
gnomAD v4:
20-3671907-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3671907C>A , CM000682.2:g.3671907C>A | GRCh38 |
| NC_000020.10:g.3652554C>A , CM000682.1:g.3652554C>A | GRCh37 |
| NC_000020.9:g.3600554C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356518.7:c.1676G>T MANE Select | ENSP00000348912.3:p.Ser559Ile | |
| ENST00000350009.6:c.1676G>T | ENSP00000322550.5:p.Ser559Ile | |
| ENST00000356518.6:c.1676G>T | ENSP00000348912.2:p.Ser559Ile | |
| ENST00000379861.8:c.1676G>T | ENSP00000369190.4:p.Ser559Ile | |
| ENST00000466620.5:n.1315G>T | ||
| ENST00000617732.1:c.*632-450G>T | ENSP00000483343.1:n.*632-450G>T | |
| ENST00000619289.4:c.1316G>T | ENSP00000484600.1:p.Ser439Ile | |
| NM_001282447.1:c.1676G>T | NP_001269376.1:p.Ser559Ile | |
| NM_025220.3:c.1676G>T | NP_079496.1:p.Ser559Ile | |
| NM_153202.2:c.1676G>T | NP_694882.1:p.Ser559Ile | |
| XM_005260843.1:c.1715G>T | XP_005260900.1:p.Ser572Ile | |
| XM_006723639.1:c.1715G>T | XP_006723702.1:p.Ser572Ile | |
| XM_006723640.1:c.1706G>T | XP_006723703.1:p.Ser569Ile | |
| XM_011529366.1:c.1712G>T | XP_011527668.1:p.Ser571Ile | |
| XM_011529367.1:c.1673G>T | XP_011527669.1:p.Ser558Ile | |
| XM_011529368.1:c.1715G>T | XP_011527670.1:p.Ser572Ile | |
| XM_011529369.1:c.1683G>T | XP_011527671.1:p.Gln561His | |
| XM_011529370.1:c.1683G>T | XP_011527672.1:p.Gln561His | |
| XM_011529373.1:c.713G>T | XP_011527675.1:p.Ser238Ile | |
| XR_937151.1:n.1819G>T | ||
| XR_937152.1:n.1819G>T | ||
| XR_937153.1:n.1700G>T | ||
| XR_937154.1:n.1700G>T | ||
| XR_937155.1:n.1621G>T | ||
| XR_937157.1:n.1623G>T | ||
| NM_001282447.2:c.1676G>T | NP_001269376.1:p.Ser559Ile | |
| NM_025220.4:c.1676G>T | NP_079496.1:p.Ser559Ile | |
| NM_153202.3:c.1676G>T | NP_694882.1:p.Ser559Ile | |
| XM_011529373.2:c.713G>T | XP_011527675.1:p.Ser238Ile | |
| XR_001754405.1:n.1787G>T | ||
| XR_002958534.1:n.1896G>T | ||
| NM_001282447.3:c.1676G>T | NP_001269376.1:p.Ser559Ile | |
| NM_025220.5:c.1676G>T MANE Select | NP_079496.1:p.Ser559Ile | |
| NM_153202.4:c.1676G>T | NP_694882.1:p.Ser559Ile |