Linked Data
ClinVar Variation Id:
328015
ClinVar RCV Id:
RCV000394535
dbSNP Id:
rs559144002
gnomAD v2:
19-11071810-C-T
gnomAD v3:
19-10961134-C-T
gnomAD v4:
19-10961134-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10961134C>T , CM000681.2:g.10961134C>T | GRCh38 |
| NC_000019.9:g.11071810C>T , CM000681.1:g.11071810C>T | GRCh37 |
| NC_000019.8:g.10932810C>T | NCBI36 |
| NG_011556.2:g.5213C>T | |
| NG_011556.3:g.5203C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000711079.1:c.-72C>T | ENSP00000518564.1:n.-72C>T | |
| ENST00000704344.1:c.-69C>T | ENSP00000515855.1:n.-69C>T | |
| ENST00000646693.2:c.-69C>T MANE Plus Clinical | ENSP00000495368.1:n.-69C>T | |
| ENST00000344626.10:c.-72C>T MANE Select | ENSP00000343896.4:n.-72C>T | |
| ENST00000429416.8:c.-148C>T | ENSP00000395654.1:n.-148C>T | |
| ENST00000444061.8:c.-72C>T | ENSP00000392837.2:n.-72C>T | |
| ENST00000642628.1:c.-72C>T | ENSP00000496498.1:n.-72C>T | |
| ENST00000642726.1:c.-69C>T | ENSP00000494353.1:n.-69C>T | |
| ENST00000643296.1:c.-72C>T | ENSP00000496635.1:n.-72C>T | |
| ENST00000643549.1:c.-69C>T | ENSP00000493975.1:n.-69C>T | |
| ENST00000644737.1:c.-69C>T | ENSP00000495548.1:n.-69C>T | |
| ENST00000644760.1:c.-145C>T | ENSP00000496682.1:n.-145C>T | |
| ENST00000645460.1:c.-69C>T | ENSP00000494463.1:n.-69C>T | |
| ENST00000646484.1:c.-69C>T | ENSP00000495536.1:n.-69C>T | |
| ENST00000646510.1:c.-148C>T | ENSP00000494772.1:n.-148C>T | |
| ENST00000646693.1:c.-69C>T | ENSP00000495368.1:n.-69C>T | |
| ENST00000647230.1:c.-72C>T | ENSP00000494676.1:n.-72C>T | |
| ENST00000344626.8:c.-72C>T | ENSP00000343896.4:n.-72C>T | |
| ENST00000429416.7:c.-148C>T | ENSP00000395654.1:n.-148C>T | |
| ENST00000444061.7:c.-72C>T | ENSP00000392837.2:n.-72C>T | |
| ENST00000541122.6:c.-232C>T | ENSP00000445036.2:n.-232C>T | |
| ENST00000589677.5:c.-301C>T | ENSP00000464778.1:n.-301C>T | |
| NM_001128844.1:c.-148C>T | NP_001122316.1:n.-148C>T | |
| NM_001128849.1:c.-72C>T | NP_001122321.1:n.-72C>T | |
| NM_003072.3:c.-72C>T | NP_003063.2:n.-72C>T | |
| XM_005260028.2:c.-72C>T | XP_005260085.1:n.-72C>T | |
| XM_005260030.2:c.-72C>T | XP_005260087.1:n.-72C>T | |
| XM_005260031.2:c.-72C>T | XP_005260088.1:n.-72C>T | |
| XM_005260032.2:c.-72C>T | XP_005260089.1:n.-72C>T | |
| XM_005260033.2:c.-72C>T | XP_005260090.1:n.-72C>T | |
| XM_005260034.2:c.-72C>T | XP_005260091.1:n.-72C>T | |
| XM_005260035.2:c.-72C>T | XP_005260092.1:n.-72C>T | |
| XM_006722845.2:c.-69C>T | XP_006722908.1:n.-69C>T | |
| XM_006722847.2:c.-72C>T | XP_006722910.1:n.-72C>T | |
| XM_011528198.1:c.-148C>T | XP_011526500.1:n.-148C>T | |
| XM_024451658.1:c.-145C>T | XP_024307426.1:n.-145C>T | |
| XM_024451659.1:c.-72C>T | XP_024307427.1:n.-72C>T | |
| XM_024451660.1:c.-72C>T | XP_024307428.1:n.-72C>T | |
| XM_024451661.1:c.-72C>T | XP_024307429.1:n.-72C>T | |
| XM_024451662.1:c.-72C>T | XP_024307430.1:n.-72C>T | |
| XM_024451663.1:c.-72C>T | XP_024307431.1:n.-72C>T | |
| XM_024451664.1:c.-72C>T | XP_024307432.1:n.-72C>T | |
| XM_024451665.1:c.-72C>T | XP_024307433.1:n.-72C>T | |
| XM_024451666.1:c.-72C>T | XP_024307434.1:n.-72C>T | |
| XM_024451667.1:c.-72C>T | XP_024307435.1:n.-72C>T | |
| NM_001128844.3:c.-148C>T | NP_001122316.1:n.-148C>T | |
| NM_001128847.4:c.-72C>T | NP_001122319.1:n.-72C>T | |
| NM_001128849.3:c.-72C>T | NP_001122321.1:n.-72C>T | |
| NM_001374457.1:c.-69C>T | NP_001361386.1:n.-69C>T | |
| NM_003072.5:c.-72C>T MANE Select | NP_003063.2:n.-72C>T | |
| NR_164683.1:n.105C>T | ||
| NM_001387283.1:c.-69C>T MANE Plus Clinical | NP_001374212.1:n.-69C>T |