Linked Data
ClinVar Variation Id:
392193
ClinVar RCV Id:
RCV000442613
dbSNP Id:
rs187853007
gnomAD v2:
12-32717080-C-G
gnomAD v3:
12-32564146-C-G
gnomAD v4:
12-32564146-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32564146C>G , CM000674.2:g.32564146C>G | GRCh38 |
| NC_000012.11:g.32717080C>G , CM000674.1:g.32717080C>G | GRCh37 |
| NC_000012.10:g.32608347C>G | NCBI36 |
| NG_008626.2:g.169618C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000427716.7:c.-236C>G | ENSP00000394487.2:n.-236C>G | |
| ENST00000531134.7:c.20C>G | ENSP00000431323.1:p.Thr7Ser | |
| ENST00000583694.2:c.-236C>G | ENSP00000462623.2:n.-236C>G | |
| ENST00000682739.1:c.-1008C>G | ENSP00000507616.1:n.-1008C>G | |
| ENST00000683182.1:c.-593C>G | ENSP00000507831.1:n.-593C>G | |
| ENST00000525053.6:c.-236C>G | ENSP00000433666.2:n.-236C>G | |
| ENST00000531134.6:c.20C>G | ENSP00000431323.1:p.Thr7Ser | |
| ENST00000534526.7:c.176C>G MANE Select | ENSP00000449273.1:p.Thr59Ser | |
| ENST00000395740.5:c.-236C>G | ENSP00000379089.1:n.-236C>G | |
| ENST00000427716.6:c.-236C>G | ENSP00000394487.2:n.-236C>G | |
| ENST00000472289.5:c.-236C>G | ENSP00000434356.1:n.-236C>G | |
| ENST00000473513.5:n.188C>G | ||
| ENST00000479023.5:n.313C>G | ||
| ENST00000493087.5:c.-236C>G | ENSP00000437109.1:n.-236C>G | |
| ENST00000494275.5:n.300C>G | ||
| ENST00000497153.5:n.218C>G | ||
| ENST00000525053.5:c.101C>G | ENSP00000433666.1:p.Thr34Ser | |
| ENST00000531134.5:c.20C>G | ENSP00000431323.1:p.Thr7Ser | |
| ENST00000534526.6:c.176C>G | ENSP00000449273.1:p.Thr59Ser | |
| ENST00000546442.5:c.-331C>G | ENSP00000446695.1:n.-331C>G | |
| ENST00000550091.5:n.114C>G | ||
| ENST00000551984.5:c.-236C>G | ENSP00000449614.1:n.-236C>G | |
| ENST00000583694.1:c.-236C>G | ENSP00000462623.1:n.-236C>G | |
| NM_001304480.1:c.101C>G | NP_001291409.1:p.Thr34Ser | |
| NM_001304481.1:c.20C>G | NP_001291410.1:p.Thr7Ser | |
| NM_001304483.1:c.-1080C>G | NP_001291412.1:n.-1080C>G | |
| NM_001304484.1:c.-1387C>G | NP_001291413.1:n.-1387C>G | |
| NM_139241.3:c.-236C>G | NP_640334.2:n.-236C>G | |
| XM_005253304.3:c.257C>G | XP_005253361.1:p.Thr86Ser | |
| XM_005253307.2:c.-331C>G | XP_005253364.1:n.-331C>G | |
| XM_005253308.3:c.-331C>G | XP_005253365.1:n.-331C>G | |
| XM_005253309.1:c.-331C>G | XP_005253366.1:n.-331C>G | |
| XM_011520554.1:c.59C>G | XP_011518856.1:p.Thr20Ser | |
| XM_011520555.1:c.-236C>G | XP_011518857.1:n.-236C>G | |
| XM_011520556.1:c.-379C>G | XP_011518858.1:n.-379C>G | |
| XM_011520557.1:c.-96C>G | XP_011518859.1:n.-96C>G | |
| NM_001330373.1:c.-331C>G | NP_001317302.1:n.-331C>G | |
| NM_001330374.1:c.-331C>G | NP_001317303.1:n.-331C>G | |
| XM_005253304.4:c.257C>G | XP_005253361.1:p.Thr86Ser | |
| XM_005253308.5:c.-331C>G | XP_005253365.1:n.-331C>G | |
| XM_017018803.1:c.257C>G | XP_016874292.1:p.Thr86Ser | |
| XM_017018805.1:c.-96C>G | XP_016874294.1:n.-96C>G | |
| XM_024448837.1:c.-865C>G | XP_024304605.1:n.-865C>G | |
| XM_024448838.1:c.-664C>G | XP_024304606.1:n.-664C>G | |
| XM_024448839.1:c.-1008C>G | XP_024304607.1:n.-1008C>G | |
| XM_024448840.1:c.-346C>G | XP_024304608.1:n.-346C>G | |
| XR_001748576.1:n.447C>G | ||
| NM_001370297.1:c.-96C>G | NP_001357226.1:n.-96C>G | |
| NM_001370298.1:c.257C>G | NP_001357227.1:p.Thr86Ser | |
| NM_001304483.2:c.-1080C>G | NP_001291412.1:n.-1080C>G | |
| NM_001304484.2:c.-1387C>G | NP_001291413.1:n.-1387C>G | |
| NM_001330373.2:c.-331C>G | NP_001317302.1:n.-331C>G | |
| NM_001330374.2:c.-331C>G | NP_001317303.1:n.-331C>G | |
| NM_001370298.3:c.176C>G MANE Select | NP_001357227.2:p.Thr59Ser | |
| NM_001384126.1:c.176C>G | NP_001371055.1:p.Thr59Ser | |
| NM_001384127.1:c.-236C>G | NP_001371056.1:n.-236C>G | |
| NM_001384128.1:c.-236C>G | NP_001371057.1:n.-236C>G | |
| NM_001384130.1:c.-331C>G | NP_001371059.1:n.-331C>G | |
| NM_001384131.1:c.-236C>G | NP_001371060.1:n.-236C>G | |
| NM_001384132.1:c.-236C>G | NP_001371061.1:n.-236C>G | |
| NM_001385118.1:c.-236C>G | NP_001372047.1:n.-236C>G | |
| NR_168884.1:n.186C>G |