Linked Data
ClinVar Variation Id:
194280
ClinVar RCV Id:
RCV000174615
RCV000205200
RCV001094178
RCV001174111
RCV001311297
RCV002399629
RCV003907561
dbSNP Id:
rs61748364
ExAC:
12:32777927 C / T
gnomAD v2:
12-32777927-C-T
gnomAD v3:
12-32624993-C-T
gnomAD v4:
12-32624993-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32624993C>T , CM000674.2:g.32624993C>T | GRCh38 |
| NC_000012.11:g.32777927C>T , CM000674.1:g.32777927C>T | GRCh37 |
| NC_000012.10:g.32669194C>T | NCBI36 |
| NG_008626.2:g.230465C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000427716.7:c.1560C>T | ENSP00000394487.2:p.Ile520= | |
| ENST00000531134.7:c.1815C>T | ENSP00000431323.1:p.Ile605= | |
| ENST00000583694.2:c.1560C>T | ENSP00000462623.2:p.Ile520= | |
| ENST00000682739.1:c.1281C>T | ENSP00000507616.1:p.Ile427= | |
| ENST00000683182.1:c.372C>T | ENSP00000507831.1:p.Ile124= | |
| ENST00000683515.1:n.1067C>T | ||
| ENST00000684033.1:n.358C>T | ||
| ENST00000525053.6:c.1560C>T | ENSP00000433666.2:p.Ile520= | |
| ENST00000531134.6:c.1815C>T | ENSP00000431323.1:p.Ile605= | |
| ENST00000534526.7:c.1971C>T MANE Select | ENSP00000449273.1:p.Ile657= | |
| ENST00000395740.5:c.*952C>T | ENSP00000379089.1:n.*952C>T | |
| ENST00000427716.6:c.1560C>T | ENSP00000394487.2:p.Ile520= | |
| ENST00000493087.5:c.*971C>T | ENSP00000437109.1:n.*971C>T | |
| ENST00000494977.1:c.1242C>T | ||
| ENST00000525053.5:c.1896C>T | ENSP00000433666.1:p.Ile632= | |
| ENST00000531134.5:c.1815C>T | ENSP00000431323.1:p.Ile605= | |
| ENST00000534526.6:c.1971C>T | ENSP00000449273.1:p.Ile657= | |
| ENST00000546442.5:c.1281C>T | ENSP00000446695.1:p.Ile427= | |
| ENST00000551984.5:c.*929C>T | ENSP00000449614.1:n.*929C>T | |
| NM_001304480.1:c.1896C>T | NP_001291409.1:p.Ile632= | |
| NM_001304481.1:c.1815C>T | NP_001291410.1:p.Ile605= | |
| NM_001304483.1:c.816C>T | NP_001291412.1:p.Ile272= | |
| NM_001304484.1:c.528C>T | NP_001291413.1:p.Ile176= | |
| NM_139241.3:c.1560C>T | NP_640334.2:p.Ile520= | |
| XM_005253304.3:c.2052C>T | XP_005253361.1:p.Ile684= | |
| XM_005253307.2:c.1281C>T | XP_005253364.1:p.Ile427= | |
| XM_005253308.3:c.1281C>T | XP_005253365.1:p.Ile427= | |
| XM_005253309.1:c.1281C>T | XP_005253366.1:p.Ile427= | |
| XM_005253310.3:c.816C>T | XP_005253367.1:p.Ile272= | |
| XM_011520554.1:c.1854C>T | XP_011518856.1:p.Ile618= | |
| XM_011520555.1:c.1560C>T | XP_011518857.1:p.Ile520= | |
| XM_011520556.1:c.1560C>T | XP_011518858.1:p.Ile520= | |
| XM_011520557.1:c.1008C>T | XP_011518859.1:p.Ile336= | |
| XM_011520558.1:c.963C>T | XP_011518860.1:p.Ile321= | |
| XM_011520559.1:c.795C>T | XP_011518861.1:p.Ile265= | |
| NM_001330373.1:c.1281C>T | NP_001317302.1:p.Ile427= | |
| NM_001330374.1:c.1281C>T | NP_001317303.1:p.Ile427= | |
| XM_005253304.4:c.2052C>T | XP_005253361.1:p.Ile684= | |
| XM_005253308.5:c.1281C>T | XP_005253365.1:p.Ile427= | |
| XM_005253310.4:c.816C>T | XP_005253367.1:p.Ile272= | |
| XM_011520558.2:c.963C>T | XP_011518860.1:p.Ile321= | |
| XM_011520559.3:c.795C>T | XP_011518861.1:p.Ile265= | |
| XM_017018803.1:c.2052C>T | XP_016874292.1:p.Ile684= | |
| XM_017018805.1:c.1008C>T | XP_016874294.1:p.Ile336= | |
| XM_024448837.1:c.1281C>T | XP_024304605.1:p.Ile427= | |
| XM_024448838.1:c.1281C>T | XP_024304606.1:p.Ile427= | |
| XM_024448839.1:c.1281C>T | XP_024304607.1:p.Ile427= | |
| XM_024448840.1:c.669C>T | XP_024304608.1:p.Ile223= | |
| NM_001370297.1:c.1008C>T | NP_001357226.1:p.Ile336= | |
| NM_001370298.1:c.2052C>T | NP_001357227.1:p.Ile684= | |
| NM_001304483.2:c.816C>T | NP_001291412.1:p.Ile272= | |
| NM_001304484.2:c.528C>T | NP_001291413.1:p.Ile176= | |
| NM_001330373.2:c.1281C>T | NP_001317302.1:p.Ile427= | |
| NM_001330374.2:c.1281C>T | NP_001317303.1:p.Ile427= | |
| NM_001370298.3:c.1971C>T MANE Select | NP_001357227.2:p.Ile657= | |
| NM_001384126.1:c.1971C>T | NP_001371055.1:p.Ile657= | |
| NM_001384127.1:c.1560C>T | NP_001371056.1:p.Ile520= | |
| NM_001384128.1:c.1560C>T | NP_001371057.1:p.Ile520= | |
| NM_001384130.1:c.1281C>T | NP_001371059.1:p.Ile427= | |
| NM_001385118.1:c.1560C>T | NP_001372047.1:p.Ile520= |