Linked Data
ClinVar Variation Id:
308284
dbSNP Id:
rs199744649
ExAC:
12:32729256 C / A
gnomAD v2:
12-32729256-C-A
gnomAD v3:
12-32576322-C-A
gnomAD v4:
12-32576322-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32576322C>A , CM000674.2:g.32576322C>A | GRCh38 |
| NC_000012.11:g.32729256C>A , CM000674.1:g.32729256C>A | GRCh37 |
| NC_000012.10:g.32620523C>A | NCBI36 |
| NG_008626.2:g.181794C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000427716.7:c.-36C>A | ENSP00000394487.2:n.-36C>A | |
| ENST00000531134.7:c.220C>A | ENSP00000431323.1:p.Pro74Thr | |
| ENST00000583694.2:c.-36C>A | ENSP00000462623.2:n.-36C>A | |
| ENST00000682739.1:c.-665C>A | ENSP00000507616.1:n.-665C>A | |
| ENST00000683182.1:c.-450+12033C>A | ENSP00000507831.1:n.-450+12033C>A | |
| ENST00000525053.6:c.-36C>A | ENSP00000433666.2:n.-36C>A | |
| ENST00000531134.6:c.220C>A | ENSP00000431323.1:p.Pro74Thr | |
| ENST00000534526.7:c.376C>A MANE Select | ENSP00000449273.1:p.Pro126Thr | |
| ENST00000395740.5:c.-36C>A | ENSP00000379089.1:n.-36C>A | |
| ENST00000427716.6:c.-36C>A | ENSP00000394487.2:n.-36C>A | |
| ENST00000472289.5:c.-36C>A | ENSP00000434356.1:n.-36C>A | |
| ENST00000473513.5:n.388C>A | ||
| ENST00000479023.5:n.513C>A | ||
| ENST00000493087.5:c.-36C>A | ENSP00000437109.1:n.-36C>A | |
| ENST00000494275.5:n.444-5638C>A | ||
| ENST00000525053.5:c.301C>A | ENSP00000433666.1:p.Pro101Thr | |
| ENST00000531134.5:c.220C>A | ENSP00000431323.1:p.Pro74Thr | |
| ENST00000534526.6:c.376C>A | ENSP00000449273.1:p.Pro126Thr | |
| ENST00000546442.5:c.-187-5638C>A | ENSP00000446695.1:n.-187-5638C>A | |
| ENST00000550091.5:n.258-5638C>A | ||
| ENST00000551984.5:c.-36C>A | ENSP00000449614.1:n.-36C>A | |
| ENST00000583694.1:c.-36C>A | ENSP00000462623.1:n.-36C>A | |
| NM_001304480.1:c.301C>A | NP_001291409.1:p.Pro101Thr | |
| NM_001304481.1:c.220C>A | NP_001291410.1:p.Pro74Thr | |
| NM_001304483.1:c.-880C>A | NP_001291412.1:n.-880C>A | |
| NM_001304484.1:c.-1187C>A | NP_001291413.1:n.-1187C>A | |
| NM_139241.3:c.-36C>A | NP_640334.2:n.-36C>A | |
| XM_005253304.3:c.457C>A | XP_005253361.1:p.Pro153Thr | |
| XM_005253307.2:c.-187-5638C>A | XP_005253364.1:n.-187-5638C>A | |
| XM_005253308.3:c.-187-5638C>A | XP_005253365.1:n.-187-5638C>A | |
| XM_005253309.1:c.-187-5638C>A | XP_005253366.1:n.-187-5638C>A | |
| XM_011520554.1:c.259C>A | XP_011518856.1:p.Pro87Thr | |
| XM_011520555.1:c.-36C>A | XP_011518857.1:n.-36C>A | |
| XM_011520556.1:c.-36C>A | XP_011518858.1:n.-36C>A | |
| XM_011520557.1:c.48+12033C>A | XP_011518859.1:n.48+12033C>A | |
| NM_001330373.1:c.-187-5638C>A | NP_001317302.1:n.-187-5638C>A | |
| NM_001330374.1:c.-187-5638C>A | NP_001317303.1:n.-187-5638C>A | |
| XM_005253304.4:c.457C>A | XP_005253361.1:p.Pro153Thr | |
| XM_005253308.5:c.-187-5638C>A | XP_005253365.1:n.-187-5638C>A | |
| XM_017018803.1:c.457C>A | XP_016874292.1:p.Pro153Thr | |
| XM_017018805.1:c.48+12033C>A | XP_016874294.1:n.48+12033C>A | |
| XM_024448837.1:c.-665C>A | XP_024304605.1:n.-665C>A | |
| XM_024448838.1:c.-464C>A | XP_024304606.1:n.-464C>A | |
| XM_024448839.1:c.-665C>A | XP_024304607.1:n.-665C>A | |
| XM_024448840.1:c.-203+12033C>A | XP_024304608.1:n.-203+12033C>A | |
| XR_001748576.1:n.647C>A | ||
| NM_001370297.1:c.48+12033C>A | NP_001357226.1:n.48+12033C>A | |
| NM_001370298.1:c.457C>A | NP_001357227.1:p.Pro153Thr | |
| NM_001304483.2:c.-880C>A | NP_001291412.1:n.-880C>A | |
| NM_001304484.2:c.-1187C>A | NP_001291413.1:n.-1187C>A | |
| NM_001330373.2:c.-187-5638C>A | NP_001317302.1:n.-187-5638C>A | |
| NM_001330374.2:c.-187-5638C>A | NP_001317303.1:n.-187-5638C>A | |
| NM_001370298.3:c.376C>A MANE Select | NP_001357227.2:p.Pro126Thr | |
| NM_001384126.1:c.376C>A | NP_001371055.1:p.Pro126Thr | |
| NM_001384127.1:c.-36C>A | NP_001371056.1:n.-36C>A | |
| NM_001384128.1:c.-36C>A | NP_001371057.1:n.-36C>A | |
| NM_001384130.1:c.-187-5638C>A | NP_001371059.1:n.-187-5638C>A | |
| NM_001384131.1:c.-36C>A | NP_001371060.1:n.-36C>A | |
| NM_001384132.1:c.-36C>A | NP_001371061.1:n.-36C>A | |
| NM_001385118.1:c.-36C>A | NP_001372047.1:n.-36C>A | |
| NR_168884.1:n.330-5638C>A |