Linked Data
dbSNP Id:
rs138450650
ExAC:
20:3652375 G / A
gnomAD v2:
20-3652375-G-A
gnomAD v3:
20-3671728-G-A
gnomAD v4:
20-3671728-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3671728G>A , CM000682.2:g.3671728G>A | GRCh38 |
| NC_000020.10:g.3652375G>A , CM000682.1:g.3652375G>A | GRCh37 |
| NC_000020.9:g.3600375G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356518.7:c.1758C>T MANE Select | ENSP00000348912.3:p.Leu586= | |
| ENST00000350009.6:c.1758C>T | ENSP00000322550.5:p.Leu586= | |
| ENST00000356518.6:c.1758C>T | ENSP00000348912.2:p.Leu586= | |
| ENST00000379861.8:c.1758C>T | ENSP00000369190.4:p.Leu586= | |
| ENST00000466620.5:n.1397C>T | ||
| ENST00000617732.1:c.*632-271C>T | ENSP00000483343.1:n.*632-271C>T | |
| ENST00000619289.4:c.1398C>T | ENSP00000484600.1:p.Leu466= | |
| NM_001282447.1:c.1758C>T | NP_001269376.1:p.Leu586= | |
| NM_025220.3:c.1758C>T | NP_079496.1:p.Leu586= | |
| NM_153202.2:c.1758C>T | NP_694882.1:p.Leu586= | |
| XM_005260843.1:c.1797C>T | XP_005260900.1:p.Leu599= | |
| XM_006723639.1:c.1797C>T | XP_006723702.1:p.Leu599= | |
| XM_006723640.1:c.1788C>T | XP_006723703.1:p.Leu596= | |
| XM_011529366.1:c.1794C>T | XP_011527668.1:p.Leu598= | |
| XM_011529367.1:c.1755C>T | XP_011527669.1:p.Leu585= | |
| XM_011529368.1:c.1797C>T | XP_011527670.1:p.Leu599= | |
| XM_011529369.1:c.1765C>T | XP_011527671.1:p.Arg589Cys | |
| XM_011529370.1:c.1765C>T | XP_011527672.1:p.Arg589Cys | |
| XM_011529373.1:c.795C>T | XP_011527675.1:p.Leu265= | |
| XR_937151.1:n.1901C>T | ||
| XR_937152.1:n.1901C>T | ||
| XR_937153.1:n.1782C>T | ||
| XR_937154.1:n.1782C>T | ||
| XR_937155.1:n.1703C>T | ||
| XR_937157.1:n.1705C>T | ||
| NM_001282447.2:c.1758C>T | NP_001269376.1:p.Leu586= | |
| NM_025220.4:c.1758C>T | NP_079496.1:p.Leu586= | |
| NM_153202.3:c.1758C>T | NP_694882.1:p.Leu586= | |
| XM_011529373.2:c.795C>T | XP_011527675.1:p.Leu265= | |
| XR_001754405.1:n.1869C>T | ||
| XR_002958534.1:n.1978C>T | ||
| NM_001282447.3:c.1758C>T | NP_001269376.1:p.Leu586= | |
| NM_025220.5:c.1758C>T MANE Select | NP_079496.1:p.Leu586= | |
| NM_153202.4:c.1758C>T | NP_694882.1:p.Leu586= |