Linked Data
ClinVar Variation Id:
3748
ClinVar RCV Id:
RCV000003946
dbSNP Id:
rs121908022
gnomAD v2:
11-111706902-C-T
gnomAD v4:
11-111836179-C-T
PubMed:
PMID:15148656
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.111836179C>T , CM000673.2:g.111836179C>T | GRCh38 |
| NC_000011.9:g.111706902C>T , CM000673.1:g.111706902C>T | GRCh37 |
| NC_000011.8:g.111212112C>T | NCBI36 |
| NG_009210.1:g.40403G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000616540.5:c.1588G>A MANE Select | ENSP00000482437.1:p.Glu530Lys | |
| ENST00000398006.6:c.1054G>A | ENSP00000381090.2:p.Glu352Lys | |
| ENST00000526272.5:n.152G>A | ||
| ENST00000530851.6:n.537+17201G>A | ||
| ENST00000531154.5:c.1075G>A | ENSP00000435517.1:p.Glu359Lys | |
| ENST00000532425.6:c.321G>A | ||
| ENST00000614444.4:c.1567G>A | ENSP00000484200.1:p.Glu523Lys | |
| ENST00000616540.4:c.1588G>A | ENSP00000482437.1:p.Glu530Lys | |
| ENST00000619129.4:c.*1119G>A | ENSP00000480661.1:n.*1119G>A | |
| ENST00000622211.4:c.2266G>A | ENSP00000482396.1:p.Glu756Lys | |
| NM_001077690.1:c.1567G>A | NP_001071158.1:p.Glu523Lys | |
| NM_001077691.1:c.1075G>A | NP_001071159.1:p.Glu359Lys | |
| NM_001077692.1:c.1054G>A | NP_001071160.1:p.Glu352Lys | |
| NM_024740.2:c.1588G>A MANE Select | NP_079016.2:p.Glu530Lys | |
| XM_005277723.3:c.1588G>A | XP_005277780.1:p.Glu530Lys | |
| XM_005277724.3:c.1567G>A | XP_005277781.1:p.Glu523Lys | |
| XM_006718913.2:c.1588G>A | XP_006718976.1:p.Glu530Lys | |
| XM_011542990.1:c.1588G>A | XP_011541292.1:p.Glu530Lys | |
| XM_011542991.1:c.1567G>A | XP_011541293.1:p.Glu523Lys | |
| XM_011542992.1:c.1588G>A | XP_011541294.1:p.Glu530Lys | |
| XM_011542993.1:c.1075G>A | XP_011541295.1:p.Glu359Lys | |
| XM_011542994.1:c.1075G>A | XP_011541296.1:p.Glu359Lys | |
| XM_011542995.1:c.1075G>A | XP_011541297.1:p.Glu359Lys | |
| XM_011542996.1:c.1075G>A | XP_011541298.1:p.Glu359Lys | |
| XM_011542997.1:c.1000G>A | XP_011541299.1:p.Glu334Lys | |
| XR_947863.1:n.1687G>A | ||
| XR_947864.1:n.1511G>A | ||
| XR_947865.1:n.1511G>A | ||
| NM_001352409.1:c.1054G>A | NP_001339338.1:p.Glu352Lys | |
| NM_001352410.1:c.1054G>A | NP_001339339.1:p.Glu352Lys | |
| NM_001352411.1:c.1054G>A | NP_001339340.1:p.Glu352Lys | |
| NM_001352412.1:c.1054G>A | NP_001339341.1:p.Glu352Lys | |
| NM_001352413.1:c.1075G>A | NP_001339342.1:p.Glu359Lys | |
| NM_001352414.1:c.1075G>A | NP_001339343.1:p.Glu359Lys | |
| NM_001352415.1:c.1054G>A | NP_001339344.1:p.Glu352Lys | |
| NM_001352416.1:c.1054G>A | NP_001339345.1:p.Glu352Lys | |
| NM_001352417.1:c.1567G>A | NP_001339346.1:p.Glu523Lys | |
| NM_001352418.1:c.1444G>A | NP_001339347.1:p.Glu482Lys | |
| NM_001352419.1:c.1075G>A | NP_001339348.1:p.Glu359Lys | |
| NM_001352420.1:c.1054G>A | NP_001339349.1:p.Glu352Lys | |
| NM_001352421.1:c.1054G>A | NP_001339350.1:p.Glu352Lys | |
| NM_001352422.1:c.979G>A | NP_001339351.1:p.Glu327Lys | |
| NM_001352423.1:c.931G>A | NP_001339352.1:p.Glu311Lys | |
| NR_147984.1:n.1964G>A | ||
| XM_005277723.5:c.1588G>A | XP_005277780.1:p.Glu530Lys | |
| XM_006718913.3:c.1588G>A | XP_006718976.1:p.Glu530Lys | |
| XM_011542992.2:c.1588G>A | XP_011541294.1:p.Glu530Lys | |
| XM_017018313.2:c.1567G>A | XP_016873802.1:p.Glu523Lys | |
| XM_017018314.2:c.1465G>A | XP_016873803.1:p.Glu489Lys | |
| XM_024448695.1:c.1567G>A | XP_024304463.1:p.Glu523Lys | |
| XR_001747967.2:n.1676G>A | ||
| XR_001747968.2:n.1655G>A | ||
| XR_001747969.2:n.1553G>A | ||
| XR_001747970.2:n.1655G>A | ||
| XR_001747971.1:n.1984G>A | ||
| XR_001747972.1:n.1988G>A | ||
| XR_001747973.1:n.1691G>A | ||
| XR_001747974.1:n.1804G>A | ||
| XR_001747975.1:n.1963G>A | ||
| XR_001747976.1:n.1967G>A | ||
| XR_001747977.1:n.1140G>A | ||
| XR_001747979.1:n.1943G>A | ||
| XR_001747980.1:n.1639G>A | ||
| XR_947863.3:n.1676G>A | ||
| XR_947864.2:n.1500G>A | ||
| XR_947865.2:n.1500G>A | ||
| NM_001077691.2:c.1075G>A | NP_001071159.1:p.Glu359Lys | |
| NM_001077692.2:c.1054G>A | NP_001071160.1:p.Glu352Lys | |
| NM_001352411.2:c.1054G>A | NP_001339340.1:p.Glu352Lys | |
| NM_001352412.2:c.1054G>A | NP_001339341.1:p.Glu352Lys | |
| NM_001352414.2:c.1075G>A | NP_001339343.1:p.Glu359Lys | |
| NM_001352420.2:c.1054G>A | NP_001339349.1:p.Glu352Lys | |
| NM_001352421.2:c.1054G>A | NP_001339350.1:p.Glu352Lys | |
| NM_001352422.2:c.979G>A | NP_001339351.1:p.Glu327Lys | |
| NM_001352423.2:c.931G>A | NP_001339352.1:p.Glu311Lys | |
| NR_147984.2:n.1984G>A |