Linked Data
ClinVar Variation Id:
314841
dbSNP Id:
rs772139596
ExAC:
14:90509459 C / T
gnomAD v2:
14-90509459-C-T
gnomAD v3:
14-90043115-C-T
gnomAD v4:
14-90043115-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.90043115C>T , CM000676.2:g.90043115C>T | GRCh38 |
| NC_000014.8:g.90509459C>T , CM000676.1:g.90509459C>T | GRCh37 |
| NC_000014.7:g.89579212C>T | NCBI36 |
| NG_009164.1:g.92214C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000335725.9:c.1799C>T MANE Select | ENSP00000337353.4:p.Thr600Met | |
| ENST00000335725.8:c.1799C>T | ENSP00000337353.4:p.Thr600Met | |
| ENST00000393452.7:c.*75C>T | ENSP00000377098.3:n.*75C>T | |
| ENST00000393454.6:c.1799C>T | ENSP00000377099.2:p.Thr600Met | |
| ENST00000545686.6:c.*1122C>T | ENSP00000444587.2:n.*1122C>T | |
| ENST00000554976.5:c.*1358C>T | ENSP00000452042.1:n.*1358C>T | |
| ENST00000555178.5:c.*984C>T | ENSP00000452363.1:n.*984C>T | |
| ENST00000555880.5:c.1690C>T | ENSP00000450628.1:p.Arg564Cys | |
| NM_001008744.1:c.1799C>T | NP_001008744.1:p.Thr600Met | |
| NM_018319.3:c.1799C>T | NP_060789.2:p.Thr600Met | |
| XM_005267847.2:c.1799C>T | XP_005267904.1:p.Thr600Met | |
| XM_005267848.1:c.1799C>T | XP_005267905.1:p.Thr600Met | |
| XM_006720197.2:c.1799C>T | XP_006720260.1:p.Thr600Met | |
| XM_006720198.2:c.1799C>T | XP_006720261.1:p.Thr600Met | |
| XM_006720199.1:c.1004C>T | XP_006720262.1:p.Thr335Met | |
| XM_006720200.2:c.1004C>T | XP_006720263.1:p.Thr335Met | |
| XM_011536941.1:c.1799C>T | XP_011535243.1:p.Thr600Met | |
| XM_011536942.1:c.1799C>T | XP_011535244.1:p.Thr600Met | |
| XM_011536943.1:c.1799C>T | XP_011535245.1:p.Thr600Met | |
| XM_011536944.1:c.1690C>T | XP_011535246.1:p.Arg564Cys | |
| NM_001330205.1:c.1690C>T | NP_001317134.1:p.Arg564Cys | |
| XM_005267848.3:c.1799C>T | XP_005267905.1:p.Thr600Met | |
| XM_006720197.4:c.1799C>T | XP_006720260.1:p.Thr600Met | |
| XM_011536942.3:c.1799C>T | XP_011535244.1:p.Thr600Met | |
| XM_011536944.2:c.1690C>T | XP_011535246.1:p.Arg564Cys | |
| XM_017021439.2:c.1799C>T | XP_016876928.1:p.Thr600Met | |
| XM_017021440.2:c.1690C>T | XP_016876929.1:p.Arg564Cys | |
| XM_024449649.1:c.1925C>T | XP_024305417.1:p.Thr642Met | |
| XM_024449650.1:c.1925C>T | XP_024305418.1:p.Thr642Met | |
| XM_024449651.1:c.1925C>T | XP_024305419.1:p.Thr642Met | |
| XM_024449652.1:c.1925C>T | XP_024305420.1:p.Thr642Met | |
| XM_024449653.1:c.1925C>T | XP_024305421.1:p.Thr642Met | |
| XM_024449654.1:c.1925C>T | XP_024305422.1:p.Thr642Met | |
| XM_024449655.1:c.1925C>T | XP_024305423.1:p.Thr642Met | |
| XM_024449656.1:c.1925C>T | XP_024305424.1:p.Thr642Met | |
| XM_024449657.1:c.1082C>T | XP_024305425.1:p.Thr361Met | |
| XM_024449658.1:c.1082C>T | XP_024305426.1:p.Thr361Met | |
| XM_024449659.1:c.973C>T | XP_024305427.1:p.Arg325Cys | |
| XR_001750427.2:n.2029C>T | ||
| XR_943492.3:n.2303C>T | ||
| NM_001008744.2:c.1799C>T | NP_001008744.1:p.Thr600Met | |
| NM_001330205.2:c.1690C>T | NP_001317134.1:p.Arg564Cys | |
| NM_018319.4:c.1799C>T MANE Select | NP_060789.2:p.Thr600Met |