Linked Data
ClinVar Variation Id:
1014
ClinVar RCV Id:
RCV000001069
dbSNP Id:
rs118203973
ExAC:
12:32778708 G / T
gnomAD v2:
12-32778708-G-T
gnomAD v3:
12-32625774-G-T
gnomAD v4:
12-32625774-G-T
PubMed:
PMID:17564972
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32625774G>T , CM000674.2:g.32625774G>T | GRCh38 |
| NC_000012.11:g.32778708G>T , CM000674.1:g.32778708G>T | GRCh37 |
| NC_000012.10:g.32669975G>T | NCBI36 |
| NG_008626.2:g.231246G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000427716.7:c.1756G>T | ENSP00000394487.2:p.Gly586Ter | |
| ENST00000531134.7:c.2011G>T | ENSP00000431323.1:p.Gly671Ter | |
| ENST00000583694.2:c.1756G>T | ENSP00000462623.2:p.Gly586Ter | |
| ENST00000682739.1:c.1477G>T | ENSP00000507616.1:p.Gly493Ter | |
| ENST00000683182.1:c.568G>T | ENSP00000507831.1:p.Gly190Ter | |
| ENST00000683515.1:n.1263G>T | ||
| ENST00000684033.1:n.554G>T | ||
| ENST00000525053.6:c.1756G>T | ENSP00000433666.2:p.Gly586Ter | |
| ENST00000531134.6:c.2011G>T | ENSP00000431323.1:p.Gly671Ter | |
| ENST00000534526.7:c.2167G>T MANE Select | ENSP00000449273.1:p.Gly723Ter | |
| ENST00000395740.5:c.*1148G>T | ENSP00000379089.1:n.*1148G>T | |
| ENST00000427716.6:c.1756G>T | ENSP00000394487.2:p.Gly586Ter | |
| ENST00000493087.5:c.*1167G>T | ENSP00000437109.1:n.*1167G>T | |
| ENST00000494977.1:c.1438G>T | ||
| ENST00000525053.5:c.2092G>T | ENSP00000433666.1:p.Gly698Ter | |
| ENST00000531134.5:c.2011G>T | ENSP00000431323.1:p.Gly671Ter | |
| ENST00000534526.6:c.2167G>T | ENSP00000449273.1:p.Gly723Ter | |
| ENST00000546442.5:c.1477G>T | ENSP00000446695.1:p.Gly493Ter | |
| ENST00000551984.5:c.*1125G>T | ENSP00000449614.1:n.*1125G>T | |
| NM_001304480.1:c.2092G>T | NP_001291409.1:p.Gly698Ter | |
| NM_001304481.1:c.2011G>T | NP_001291410.1:p.Gly671Ter | |
| NM_001304483.1:c.1012G>T | NP_001291412.1:p.Gly338Ter | |
| NM_001304484.1:c.724G>T | NP_001291413.1:p.Gly242Ter | |
| NM_139241.3:c.1756G>T | NP_640334.2:p.Gly586Ter | |
| XM_005253304.3:c.2248G>T | XP_005253361.1:p.Gly750Ter | |
| XM_005253307.2:c.1477G>T | XP_005253364.1:p.Gly493Ter | |
| XM_005253308.3:c.1477G>T | XP_005253365.1:p.Gly493Ter | |
| XM_005253309.1:c.1477G>T | XP_005253366.1:p.Gly493Ter | |
| XM_005253310.3:c.1012G>T | XP_005253367.1:p.Gly338Ter | |
| XM_011520554.1:c.2050G>T | XP_011518856.1:p.Gly684Ter | |
| XM_011520555.1:c.1756G>T | XP_011518857.1:p.Gly586Ter | |
| XM_011520556.1:c.1756G>T | XP_011518858.1:p.Gly586Ter | |
| XM_011520557.1:c.1204G>T | XP_011518859.1:p.Gly402Ter | |
| XM_011520558.1:c.1159G>T | XP_011518860.1:p.Gly387Ter | |
| XM_011520559.1:c.991G>T | XP_011518861.1:p.Gly331Ter | |
| NM_001330373.1:c.1477G>T | NP_001317302.1:p.Gly493Ter | |
| NM_001330374.1:c.1477G>T | NP_001317303.1:p.Gly493Ter | |
| XM_005253304.4:c.2248G>T | XP_005253361.1:p.Gly750Ter | |
| XM_005253308.5:c.1477G>T | XP_005253365.1:p.Gly493Ter | |
| XM_005253310.4:c.1012G>T | XP_005253367.1:p.Gly338Ter | |
| XM_011520558.2:c.1159G>T | XP_011518860.1:p.Gly387Ter | |
| XM_011520559.3:c.991G>T | XP_011518861.1:p.Gly331Ter | |
| XM_017018803.1:c.2248G>T | XP_016874292.1:p.Gly750Ter | |
| XM_017018805.1:c.1204G>T | XP_016874294.1:p.Gly402Ter | |
| XM_024448837.1:c.1477G>T | XP_024304605.1:p.Gly493Ter | |
| XM_024448838.1:c.1477G>T | XP_024304606.1:p.Gly493Ter | |
| XM_024448839.1:c.1477G>T | XP_024304607.1:p.Gly493Ter | |
| XM_024448840.1:c.865G>T | XP_024304608.1:p.Gly289Ter | |
| NM_001370297.1:c.1204G>T | NP_001357226.1:p.Gly402Ter | |
| NM_001370298.1:c.2248G>T | NP_001357227.1:p.Gly750Ter | |
| NM_001304483.2:c.1012G>T | NP_001291412.1:p.Gly338Ter | |
| NM_001304484.2:c.724G>T | NP_001291413.1:p.Gly242Ter | |
| NM_001330373.2:c.1477G>T | NP_001317302.1:p.Gly493Ter | |
| NM_001330374.2:c.1477G>T | NP_001317303.1:p.Gly493Ter | |
| NM_001370298.3:c.2167G>T MANE Select | NP_001357227.2:p.Gly723Ter | |
| NM_001384126.1:c.2167G>T | NP_001371055.1:p.Gly723Ter | |
| NM_001384127.1:c.1756G>T | NP_001371056.1:p.Gly586Ter | |
| NM_001384128.1:c.1756G>T | NP_001371057.1:p.Gly586Ter | |
| NM_001384130.1:c.1477G>T | NP_001371059.1:p.Gly493Ter | |
| NM_001385118.1:c.1756G>T | NP_001372047.1:p.Gly586Ter |