Linked Data
ClinVar Variation Id:
43135
ClinVar RCV Id:
RCV000036039
RCV000665432
RCV001111945
RCV001111946
RCV001111947
RCV001831624
RCV001075067
RCV001247583
dbSNP Id:
rs199818783
ExAC:
11:76871260 C / T
gnomAD v2:
11-76871260-C-T
gnomAD v3:
11-77160214-C-T
gnomAD v4:
11-77160214-C-T
PubMed:
PMID:16963483
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.77160214C>T , CM000673.2:g.77160214C>T | GRCh38 |
| NC_000011.9:g.76871260C>T , CM000673.1:g.76871260C>T | GRCh37 |
| NC_000011.8:g.76548908C>T | NCBI36 |
| NG_009086.1:g.36951C>T | |
| NG_009086.2:g.36969C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409709.9:c.1132C>T MANE Select | ENSP00000386331.3:p.Arg378Cys | |
| ENST00000409619.6:c.1099C>T | ENSP00000386635.2:p.Arg367Cys | |
| ENST00000409709.7:c.1132C>T | ENSP00000386331.3:p.Arg378Cys | |
| ENST00000409893.5:c.1132C>T | ENSP00000386689.1:p.Arg378Cys | |
| ENST00000458637.6:c.1132C>T | ENSP00000392185.2:p.Arg378Cys | |
| ENST00000620575.4:c.1132C>T | ENSP00000477640.1:p.Arg378Cys | |
| NM_000260.3:c.1132C>T | NP_000251.3:p.Arg378Cys | |
| NM_001127179.2:c.1132C>T | NP_001120651.2:p.Arg378Cys | |
| NM_001127180.1:c.1132C>T | NP_001120652.1:p.Arg378Cys | |
| XM_005274012.2:c.1132C>T | XP_005274069.1:p.Arg378Cys | |
| XM_006718558.2:c.1132C>T | XP_006718621.1:p.Arg378Cys | |
| XM_006718559.2:c.1132C>T | XP_006718622.1:p.Arg378Cys | |
| XM_006718560.2:c.1132C>T | XP_006718623.1:p.Arg378Cys | |
| XM_006718561.2:c.1132C>T | XP_006718624.1:p.Arg378Cys | |
| XM_011545044.1:c.1132C>T | XP_011543346.1:p.Arg378Cys | |
| XM_011545045.1:c.1132C>T | XP_011543347.1:p.Arg378Cys | |
| XM_011545046.1:c.1099C>T | XP_011543348.1:p.Arg367Cys | |
| XM_011545047.1:c.1132C>T | XP_011543349.1:p.Arg378Cys | |
| XM_011545048.1:c.1132C>T | XP_011543350.1:p.Arg378Cys | |
| XM_011545049.1:c.901C>T | XP_011543351.1:p.Arg301Cys | |
| XM_011545050.1:c.874C>T | XP_011543352.1:p.Arg292Cys | |
| XM_011545051.1:c.1132C>T | XP_011543353.1:p.Arg378Cys | |
| XM_011545052.1:c.1132C>T | XP_011543354.1:p.Arg378Cys | |
| XR_949938.1:n.1452C>T | ||
| XR_949941.1:n.1452C>T | ||
| XR_949942.1:n.1454C>T | ||
| XR_949943.1:n.1454C>T | ||
| XM_011545044.2:c.1132C>T | XP_011543346.1:p.Arg378Cys | |
| XM_011545046.2:c.1222C>T | XP_011543348.2:p.Arg408Cys | |
| XM_011545050.2:c.874C>T | XP_011543352.1:p.Arg292Cys | |
| XM_017017778.1:c.1222C>T | XP_016873267.1:p.Arg408Cys | |
| XM_017017779.1:c.1222C>T | XP_016873268.1:p.Arg408Cys | |
| XM_017017780.1:c.1222C>T | XP_016873269.1:p.Arg408Cys | |
| XM_017017781.1:c.1222C>T | XP_016873270.1:p.Arg408Cys | |
| XM_017017782.1:c.1222C>T | XP_016873271.1:p.Arg408Cys | |
| XM_017017783.1:c.1222C>T | XP_016873272.1:p.Arg408Cys | |
| XM_017017784.1:c.1222C>T | XP_016873273.1:p.Arg408Cys | |
| XM_017017785.1:c.991C>T | XP_016873274.1:p.Arg331Cys | |
| XM_017017786.1:c.1222C>T | XP_016873275.1:p.Arg408Cys | |
| XM_017017787.1:c.1222C>T | XP_016873276.1:p.Arg408Cys | |
| XM_017017788.1:c.1222C>T | XP_016873277.1:p.Arg408Cys | |
| XR_001747885.1:n.1237C>T | ||
| XR_001747886.1:n.1237C>T | ||
| XR_001747887.1:n.1237C>T | ||
| XR_001747888.1:n.1237C>T | ||
| XR_001747889.1:n.1237C>T | ||
| NM_000260.4:c.1132C>T MANE Select | NP_000251.3:p.Arg378Cys | |
| NM_001127180.2:c.1132C>T | NP_001120652.1:p.Arg378Cys | |
| NM_001369365.1:c.1099C>T | NP_001356294.1:p.Arg367Cys |