Linked Data
ClinVar Variation Id:
380142
dbSNP Id:
rs45516107
ExAC:
11:111708280 G / A
gnomAD v2:
11-111708280-G-A
gnomAD v3:
11-111837557-G-A
gnomAD v4:
11-111837557-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.111837557G>A , CM000673.2:g.111837557G>A | GRCh38 |
| NC_000011.9:g.111708280G>A , CM000673.1:g.111708280G>A | GRCh37 |
| NC_000011.8:g.111213490G>A | NCBI36 |
| NG_009210.1:g.39025C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000616540.5:c.1383C>T MANE Select | ENSP00000482437.1:p.Thr461= | |
| ENST00000398006.6:c.849C>T | ENSP00000381090.2:p.Thr283= | |
| ENST00000527294.5:n.680C>T | ||
| ENST00000530851.6:n.537+15823C>T | ||
| ENST00000531154.5:c.870C>T | ENSP00000435517.1:p.Thr290= | |
| ENST00000532425.6:c.116C>T | ||
| ENST00000613181.4:c.*784C>T | ENSP00000479335.1:n.*784C>T | |
| ENST00000614444.4:c.1362C>T | ENSP00000484200.1:p.Thr454= | |
| ENST00000616540.4:c.1383C>T | ENSP00000482437.1:p.Thr461= | |
| ENST00000619129.4:c.*914C>T | ENSP00000480661.1:n.*914C>T | |
| ENST00000622211.4:c.2061C>T | ENSP00000482396.1:p.Thr687= | |
| NM_001077690.1:c.1362C>T | NP_001071158.1:p.Thr454= | |
| NM_001077691.1:c.870C>T | NP_001071159.1:p.Thr290= | |
| NM_001077692.1:c.849C>T | NP_001071160.1:p.Thr283= | |
| NM_024740.2:c.1383C>T MANE Select | NP_079016.2:p.Thr461= | |
| XM_005277723.3:c.1383C>T | XP_005277780.1:p.Thr461= | |
| XM_005277724.3:c.1362C>T | XP_005277781.1:p.Thr454= | |
| XM_006718913.2:c.1383C>T | XP_006718976.1:p.Thr461= | |
| XM_011542990.1:c.1383C>T | XP_011541292.1:p.Thr461= | |
| XM_011542991.1:c.1362C>T | XP_011541293.1:p.Thr454= | |
| XM_011542992.1:c.1383C>T | XP_011541294.1:p.Thr461= | |
| XM_011542993.1:c.870C>T | XP_011541295.1:p.Thr290= | |
| XM_011542994.1:c.870C>T | XP_011541296.1:p.Thr290= | |
| XM_011542995.1:c.870C>T | XP_011541297.1:p.Thr290= | |
| XM_011542996.1:c.870C>T | XP_011541298.1:p.Thr290= | |
| XM_011542997.1:c.795C>T | XP_011541299.1:p.Thr265= | |
| XR_947863.1:n.1482C>T | ||
| XR_947864.1:n.1306C>T | ||
| XR_947865.1:n.1306C>T | ||
| NM_001352409.1:c.849C>T | NP_001339338.1:p.Thr283= | |
| NM_001352410.1:c.849C>T | NP_001339339.1:p.Thr283= | |
| NM_001352411.1:c.849C>T | NP_001339340.1:p.Thr283= | |
| NM_001352412.1:c.849C>T | NP_001339341.1:p.Thr283= | |
| NM_001352413.1:c.870C>T | NP_001339342.1:p.Thr290= | |
| NM_001352414.1:c.870C>T | NP_001339343.1:p.Thr290= | |
| NM_001352415.1:c.849C>T | NP_001339344.1:p.Thr283= | |
| NM_001352416.1:c.849C>T | NP_001339345.1:p.Thr283= | |
| NM_001352417.1:c.1362C>T | NP_001339346.1:p.Thr454= | |
| NM_001352418.1:c.1239C>T | NP_001339347.1:p.Thr413= | |
| NM_001352419.1:c.870C>T | NP_001339348.1:p.Thr290= | |
| NM_001352420.1:c.849C>T | NP_001339349.1:p.Thr283= | |
| NM_001352421.1:c.849C>T | NP_001339350.1:p.Thr283= | |
| NM_001352422.1:c.774C>T | NP_001339351.1:p.Thr258= | |
| NM_001352423.1:c.726C>T | NP_001339352.1:p.Thr242= | |
| NR_147984.1:n.1759C>T | ||
| XM_005277723.5:c.1383C>T | XP_005277780.1:p.Thr461= | |
| XM_006718913.3:c.1383C>T | XP_006718976.1:p.Thr461= | |
| XM_011542992.2:c.1383C>T | XP_011541294.1:p.Thr461= | |
| XM_017018313.2:c.1362C>T | XP_016873802.1:p.Thr454= | |
| XM_017018314.2:c.1260C>T | XP_016873803.1:p.Thr420= | |
| XM_024448695.1:c.1362C>T | XP_024304463.1:p.Thr454= | |
| XR_001747967.2:n.1471C>T | ||
| XR_001747968.2:n.1450C>T | ||
| XR_001747969.2:n.1348C>T | ||
| XR_001747970.2:n.1450C>T | ||
| XR_001747971.1:n.1779C>T | ||
| XR_001747972.1:n.1783C>T | ||
| XR_001747973.1:n.1486C>T | ||
| XR_001747974.1:n.1599C>T | ||
| XR_001747975.1:n.1758C>T | ||
| XR_001747976.1:n.1762C>T | ||
| XR_001747977.1:n.935C>T | ||
| XR_001747979.1:n.1738C>T | ||
| XR_001747980.1:n.1434C>T | ||
| XR_947863.3:n.1471C>T | ||
| XR_947864.2:n.1295C>T | ||
| XR_947865.2:n.1295C>T | ||
| NM_001077691.2:c.870C>T | NP_001071159.1:p.Thr290= | |
| NM_001077692.2:c.849C>T | NP_001071160.1:p.Thr283= | |
| NM_001352411.2:c.849C>T | NP_001339340.1:p.Thr283= | |
| NM_001352412.2:c.849C>T | NP_001339341.1:p.Thr283= | |
| NM_001352414.2:c.870C>T | NP_001339343.1:p.Thr290= | |
| NM_001352420.2:c.849C>T | NP_001339349.1:p.Thr283= | |
| NM_001352421.2:c.849C>T | NP_001339350.1:p.Thr283= | |
| NM_001352422.2:c.774C>T | NP_001339351.1:p.Thr258= | |
| NM_001352423.2:c.726C>T | NP_001339352.1:p.Thr242= | |
| NR_147984.2:n.1779C>T |