Linked Data
ClinVar Variation Id:
188187
ClinVar RCV Id:
RCV000168099
RCV000219132
RCV000857634
RCV001174096
RCV001094112
RCV002381537
RCV003982919
dbSNP Id:
rs138160928
ExAC:
12:32772659 C / A
gnomAD v2:
12-32772659-C-A
gnomAD v3:
12-32619725-C-A
gnomAD v4:
12-32619725-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32619725C>A , CM000674.2:g.32619725C>A | GRCh38 |
| NC_000012.11:g.32772659C>A , CM000674.1:g.32772659C>A | GRCh37 |
| NC_000012.10:g.32663926C>A | NCBI36 |
| NG_008626.2:g.225197C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000427716.7:c.1366C>A | ENSP00000394487.2:p.Pro456Thr | |
| ENST00000531134.7:c.1621C>A | ENSP00000431323.1:p.Pro541Thr | |
| ENST00000583694.2:c.1366C>A | ENSP00000462623.2:p.Pro456Thr | |
| ENST00000682739.1:c.1087C>A | ENSP00000507616.1:p.Pro363Thr | |
| ENST00000683182.1:c.178C>A | ENSP00000507831.1:p.Pro60Thr | |
| ENST00000683515.1:n.873C>A | ||
| ENST00000684033.1:n.164C>A | ||
| ENST00000525053.6:c.1366C>A | ENSP00000433666.2:p.Pro456Thr | |
| ENST00000531134.6:c.1621C>A | ENSP00000431323.1:p.Pro541Thr | |
| ENST00000534526.7:c.1777C>A MANE Select | ENSP00000449273.1:p.Pro593Thr | |
| ENST00000395740.5:c.*758C>A | ENSP00000379089.1:n.*758C>A | |
| ENST00000427716.6:c.1366C>A | ENSP00000394487.2:p.Pro456Thr | |
| ENST00000493087.5:c.*777C>A | ENSP00000437109.1:n.*777C>A | |
| ENST00000494977.1:c.955C>A | ||
| ENST00000525053.5:c.1702C>A | ENSP00000433666.1:p.Pro568Thr | |
| ENST00000531134.5:c.1621C>A | ENSP00000431323.1:p.Pro541Thr | |
| ENST00000534526.6:c.1777C>A | ENSP00000449273.1:p.Pro593Thr | |
| ENST00000546442.5:c.1087C>A | ENSP00000446695.1:p.Pro363Thr | |
| ENST00000551984.5:c.*735C>A | ENSP00000449614.1:n.*735C>A | |
| NM_001304480.1:c.1702C>A | NP_001291409.1:p.Pro568Thr | |
| NM_001304481.1:c.1621C>A | NP_001291410.1:p.Pro541Thr | |
| NM_001304483.1:c.622C>A | NP_001291412.1:p.Pro208Thr | |
| NM_001304484.1:c.334C>A | NP_001291413.1:p.Pro112Thr | |
| NM_139241.3:c.1366C>A | NP_640334.2:p.Pro456Thr | |
| XM_005253304.3:c.1858C>A | XP_005253361.1:p.Pro620Thr | |
| XM_005253307.2:c.1087C>A | XP_005253364.1:p.Pro363Thr | |
| XM_005253308.3:c.1087C>A | XP_005253365.1:p.Pro363Thr | |
| XM_005253309.1:c.1087C>A | XP_005253366.1:p.Pro363Thr | |
| XM_005253310.3:c.622C>A | XP_005253367.1:p.Pro208Thr | |
| XM_011520554.1:c.1660C>A | XP_011518856.1:p.Pro554Thr | |
| XM_011520555.1:c.1366C>A | XP_011518857.1:p.Pro456Thr | |
| XM_011520556.1:c.1366C>A | XP_011518858.1:p.Pro456Thr | |
| XM_011520557.1:c.814C>A | XP_011518859.1:p.Pro272Thr | |
| XM_011520558.1:c.769C>A | XP_011518860.1:p.Pro257Thr | |
| XM_011520559.1:c.601C>A | XP_011518861.1:p.Pro201Thr | |
| NM_001330373.1:c.1087C>A | NP_001317302.1:p.Pro363Thr | |
| NM_001330374.1:c.1087C>A | NP_001317303.1:p.Pro363Thr | |
| XM_005253304.4:c.1858C>A | XP_005253361.1:p.Pro620Thr | |
| XM_005253308.5:c.1087C>A | XP_005253365.1:p.Pro363Thr | |
| XM_005253310.4:c.622C>A | XP_005253367.1:p.Pro208Thr | |
| XM_011520558.2:c.769C>A | XP_011518860.1:p.Pro257Thr | |
| XM_011520559.3:c.601C>A | XP_011518861.1:p.Pro201Thr | |
| XM_017018803.1:c.1858C>A | XP_016874292.1:p.Pro620Thr | |
| XM_017018805.1:c.814C>A | XP_016874294.1:p.Pro272Thr | |
| XM_024448837.1:c.1087C>A | XP_024304605.1:p.Pro363Thr | |
| XM_024448838.1:c.1087C>A | XP_024304606.1:p.Pro363Thr | |
| XM_024448839.1:c.1087C>A | XP_024304607.1:p.Pro363Thr | |
| XM_024448840.1:c.475C>A | XP_024304608.1:p.Pro159Thr | |
| NM_001370297.1:c.814C>A | NP_001357226.1:p.Pro272Thr | |
| NM_001370298.1:c.1858C>A | NP_001357227.1:p.Pro620Thr | |
| NM_001304483.2:c.622C>A | NP_001291412.1:p.Pro208Thr | |
| NM_001304484.2:c.334C>A | NP_001291413.1:p.Pro112Thr | |
| NM_001330373.2:c.1087C>A | NP_001317302.1:p.Pro363Thr | |
| NM_001330374.2:c.1087C>A | NP_001317303.1:p.Pro363Thr | |
| NM_001370298.3:c.1777C>A MANE Select | NP_001357227.2:p.Pro593Thr | |
| NM_001384126.1:c.1777C>A | NP_001371055.1:p.Pro593Thr | |
| NM_001384127.1:c.1366C>A | NP_001371056.1:p.Pro456Thr | |
| NM_001384128.1:c.1366C>A | NP_001371057.1:p.Pro456Thr | |
| NM_001384130.1:c.1087C>A | NP_001371059.1:p.Pro363Thr | |
| NM_001385118.1:c.1366C>A | NP_001372047.1:p.Pro456Thr |