Linked Data
ClinVar Variation Id:
444271
dbSNP Id:
rs782372397
ExAC:
11:111709045 C / T
gnomAD v2:
11-111709045-C-T
gnomAD v3:
11-111838322-C-T
gnomAD v4:
11-111838322-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.111838322C>T , CM000673.2:g.111838322C>T | GRCh38 |
| NC_000011.9:g.111709045C>T , CM000673.1:g.111709045C>T | GRCh37 |
| NC_000011.8:g.111214255C>T | NCBI36 |
| NG_009210.1:g.38260G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000616540.5:c.1251G>A MANE Select | ENSP00000482437.1:p.Ser417= | |
| ENST00000398006.6:c.717G>A | ENSP00000381090.2:p.Ser239= | |
| ENST00000527294.5:n.548G>A | ||
| ENST00000530851.6:n.537+15058G>A | ||
| ENST00000531154.5:c.738G>A | ENSP00000435517.1:p.Ser246= | |
| ENST00000613181.4:c.*652G>A | ENSP00000479335.1:n.*652G>A | |
| ENST00000614444.4:c.1230G>A | ENSP00000484200.1:p.Ser410= | |
| ENST00000616540.4:c.1251G>A | ENSP00000482437.1:p.Ser417= | |
| ENST00000619129.4:c.*782G>A | ENSP00000480661.1:n.*782G>A | |
| ENST00000622211.4:c.1929G>A | ENSP00000482396.1:p.Ser643= | |
| NM_001077690.1:c.1230G>A | NP_001071158.1:p.Ser410= | |
| NM_001077691.1:c.738G>A | NP_001071159.1:p.Ser246= | |
| NM_001077692.1:c.717G>A | NP_001071160.1:p.Ser239= | |
| NM_024740.2:c.1251G>A MANE Select | NP_079016.2:p.Ser417= | |
| XM_005277723.3:c.1251G>A | XP_005277780.1:p.Ser417= | |
| XM_005277724.3:c.1230G>A | XP_005277781.1:p.Ser410= | |
| XM_006718913.2:c.1251G>A | XP_006718976.1:p.Ser417= | |
| XM_011542990.1:c.1251G>A | XP_011541292.1:p.Ser417= | |
| XM_011542991.1:c.1230G>A | XP_011541293.1:p.Ser410= | |
| XM_011542992.1:c.1251G>A | XP_011541294.1:p.Ser417= | |
| XM_011542993.1:c.738G>A | XP_011541295.1:p.Ser246= | |
| XM_011542994.1:c.738G>A | XP_011541296.1:p.Ser246= | |
| XM_011542995.1:c.738G>A | XP_011541297.1:p.Ser246= | |
| XM_011542996.1:c.738G>A | XP_011541298.1:p.Ser246= | |
| XM_011542997.1:c.663G>A | XP_011541299.1:p.Ser221= | |
| XR_947863.1:n.1350G>A | ||
| XR_947864.1:n.1174G>A | ||
| XR_947865.1:n.1174G>A | ||
| NM_001352409.1:c.717G>A | NP_001339338.1:p.Ser239= | |
| NM_001352410.1:c.717G>A | NP_001339339.1:p.Ser239= | |
| NM_001352411.1:c.717G>A | NP_001339340.1:p.Ser239= | |
| NM_001352412.1:c.717G>A | NP_001339341.1:p.Ser239= | |
| NM_001352413.1:c.738G>A | NP_001339342.1:p.Ser246= | |
| NM_001352414.1:c.738G>A | NP_001339343.1:p.Ser246= | |
| NM_001352415.1:c.717G>A | NP_001339344.1:p.Ser239= | |
| NM_001352416.1:c.717G>A | NP_001339345.1:p.Ser239= | |
| NM_001352417.1:c.1230G>A | NP_001339346.1:p.Ser410= | |
| NM_001352418.1:c.1107G>A | NP_001339347.1:p.Ser369= | |
| NM_001352419.1:c.738G>A | NP_001339348.1:p.Ser246= | |
| NM_001352420.1:c.717G>A | NP_001339349.1:p.Ser239= | |
| NM_001352421.1:c.717G>A | NP_001339350.1:p.Ser239= | |
| NM_001352422.1:c.642G>A | NP_001339351.1:p.Ser214= | |
| NM_001352423.1:c.594G>A | NP_001339352.1:p.Ser198= | |
| NR_147984.1:n.1627G>A | ||
| XM_005277723.5:c.1251G>A | XP_005277780.1:p.Ser417= | |
| XM_006718913.3:c.1251G>A | XP_006718976.1:p.Ser417= | |
| XM_011542992.2:c.1251G>A | XP_011541294.1:p.Ser417= | |
| XM_017018313.2:c.1230G>A | XP_016873802.1:p.Ser410= | |
| XM_017018314.2:c.1128G>A | XP_016873803.1:p.Ser376= | |
| XM_024448695.1:c.1230G>A | XP_024304463.1:p.Ser410= | |
| XR_001747967.2:n.1339G>A | ||
| XR_001747968.2:n.1318G>A | ||
| XR_001747969.2:n.1216G>A | ||
| XR_001747970.2:n.1318G>A | ||
| XR_001747971.1:n.1647G>A | ||
| XR_001747972.1:n.1651G>A | ||
| XR_001747973.1:n.1354G>A | ||
| XR_001747974.1:n.1467G>A | ||
| XR_001747975.1:n.1626G>A | ||
| XR_001747976.1:n.1630G>A | ||
| XR_001747977.1:n.803G>A | ||
| XR_001747979.1:n.1606G>A | ||
| XR_001747980.1:n.1302G>A | ||
| XR_947863.3:n.1339G>A | ||
| XR_947864.2:n.1163G>A | ||
| XR_947865.2:n.1163G>A | ||
| NM_001077691.2:c.738G>A | NP_001071159.1:p.Ser246= | |
| NM_001077692.2:c.717G>A | NP_001071160.1:p.Ser239= | |
| NM_001352411.2:c.717G>A | NP_001339340.1:p.Ser239= | |
| NM_001352412.2:c.717G>A | NP_001339341.1:p.Ser239= | |
| NM_001352414.2:c.738G>A | NP_001339343.1:p.Ser246= | |
| NM_001352420.2:c.717G>A | NP_001339349.1:p.Ser239= | |
| NM_001352421.2:c.717G>A | NP_001339350.1:p.Ser239= | |
| NM_001352422.2:c.642G>A | NP_001339351.1:p.Ser214= | |
| NM_001352423.2:c.594G>A | NP_001339352.1:p.Ser198= | |
| NR_147984.2:n.1647G>A |