Linked Data
ClinVar Variation Id:
8139
ClinVar RCV Id:
RCV000008615
RCV000118043
RCV000276900
RCV000331945
RCV000371595
RCV001723553
RCV001818144
dbSNP Id:
rs3856806
ExAC:
3:12475557 C / T
gnomAD v2:
3-12475557-C-T
gnomAD v3:
3-12434058-C-T
gnomAD v4:
3-12434058-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12434058C>T , CM000665.2:g.12434058C>T | GRCh38 |
| NC_000003.11:g.12475557C>T , CM000665.1:g.12475557C>T | GRCh37 |
| NC_000003.10:g.12450557C>T | NCBI36 |
| NG_011749.1:g.151209C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000681966.1:c.*595C>T | ENSP00000507572.1:n.*595C>T | |
| ENST00000681982.1:c.1341C>T | ENSP00000508065.1:p.His447= | |
| ENST00000682125.1:n.1386C>T | ||
| ENST00000682446.1:c.1341C>T | ENSP00000506813.1:p.His447= | |
| ENST00000682494.1:n.4241C>T | ||
| ENST00000682604.1:n.1584C>T | ||
| ENST00000683586.1:c.1341C>T | ENSP00000507893.1:p.His447= | |
| ENST00000683599.1:n.381C>T | ||
| ENST00000683699.1:c.*143C>T | ENSP00000507823.1:n.*143C>T | |
| ENST00000683700.1:c.1231C>T | ENSP00000508248.1:n.1231C>T | |
| ENST00000684065.1:c.*627C>T | ENSP00000508347.1:n.*627C>T | |
| ENST00000684094.1:n.1983C>T | ||
| ENST00000684277.1:n.309C>T | ||
| ENST00000309576.11:c.1341C>T | ENSP00000312472.7:p.His447= | |
| ENST00000397000.6:c.*143C>T | ENSP00000380196.2:n.*143C>T | |
| ENST00000397010.7:c.1341C>T | ENSP00000380205.3:p.His447= | |
| ENST00000397015.7:c.1341C>T | ENSP00000380210.3:p.His447= | |
| ENST00000397026.7:c.1341C>T | ENSP00000380221.3:p.His447= | |
| ENST00000643197.2:c.1341C>T | ENSP00000495840.2:p.His447= | |
| ENST00000643888.2:c.1341C>T | ENSP00000494934.2:p.His447= | |
| ENST00000644622.2:c.1341C>T | ENSP00000494873.2:p.His447= | |
| ENST00000651735.1:c.1341C>T MANE Select | ENSP00000498313.1:p.His447= | |
| ENST00000652098.1:c.795C>T | ENSP00000498300.1:p.His265= | |
| ENST00000652431.1:c.1029C>T | ENSP00000498717.1:p.His343= | |
| ENST00000287820.10:c.1431C>T | ENSP00000287820.6:p.His477= | |
| ENST00000309576.10:c.1347C>T | ENSP00000312472.6:p.His449= | |
| ENST00000397000.5:c.*143C>T | ENSP00000380196.1:n.*143C>T | |
| ENST00000397010.6:c.1347C>T | ENSP00000380205.2:p.His449= | |
| ENST00000397012.6:c.1347C>T | ENSP00000380207.2:p.His449= | |
| ENST00000397015.6:c.1347C>T | ENSP00000380210.2:p.His449= | |
| ENST00000397023.5:c.*1569C>T | ENSP00000380218.1:n.*1569C>T | |
| ENST00000397026.6:c.1365C>T | ENSP00000380221.2:p.His455= | |
| NM_005037.5:c.1347C>T | NP_005028.4:p.His449= | |
| NM_015869.4:c.1431C>T | NP_056953.2:p.His477= | |
| NM_138711.3:c.1347C>T | NP_619725.2:p.His449= | |
| NM_138712.3:c.1347C>T | NP_619726.2:p.His449= | |
| XM_011533840.1:c.1347C>T | XP_011532142.1:p.His449= | |
| XM_011533841.1:c.1347C>T | XP_011532143.1:p.His449= | |
| XM_011533842.1:c.1270+16904C>T | XP_011532144.1:n.1270+16904C>T | |
| XM_011533843.1:c.*143C>T | XP_011532145.1:n.*143C>T | |
| XM_011533844.1:c.*143C>T | XP_011532146.1:n.*143C>T | |
| NM_001330615.1:c.*143C>T | NP_001317544.1:n.*143C>T | |
| NM_001354666.1:c.1347C>T | NP_001341595.1:p.His449= | |
| NM_001354667.1:c.1347C>T | NP_001341596.1:p.His449= | |
| NM_001354669.1:c.714C>T | NP_001341598.1:p.His238= | |
| XM_011533842.2:c.1270+16904C>T | XP_011532144.1:n.1270+16904C>T | |
| XM_011533843.2:c.*143C>T | XP_011532145.1:n.*143C>T | |
| XM_024453604.1:c.1347C>T | XP_024309372.1:p.His449= | |
| XM_024453605.1:c.1347C>T | XP_024309373.1:p.His449= | |
| XM_024453606.1:c.1347C>T | XP_024309374.1:p.His449= | |
| NM_001330615.2:c.*143C>T | NP_001317544.1:n.*143C>T | |
| NM_001354666.2:c.1347C>T | NP_001341595.1:p.His449= | |
| NM_001354667.2:c.1347C>T | NP_001341596.1:p.His449= | |
| NM_001354669.2:c.714C>T | NP_001341598.1:p.His238= | |
| NM_001374261.1:c.*143C>T | NP_001361190.1:n.*143C>T | |
| NM_001374262.1:c.*143C>T | NP_001361191.1:n.*143C>T | |
| NM_001374263.1:c.1347C>T | NP_001361192.1:p.His449= | |
| NM_001374264.1:c.1347C>T | NP_001361193.1:p.His449= | |
| NM_001374265.1:c.*143C>T | NP_001361194.1:n.*143C>T | |
| NM_001374266.1:c.*127C>T | NP_001361195.1:n.*127C>T | |
| NM_005037.6:c.1347C>T | NP_005028.4:p.His449= | |
| NM_015869.5:c.1431C>T | NP_056953.2:p.His477= | |
| NM_138711.4:c.1347C>T | NP_619725.2:p.His449= | |
| NM_138712.4:c.1347C>T | NP_619726.2:p.His449= | |
| NM_001330615.4:c.*143C>T | NP_001317544.2:n.*143C>T | |
| NM_001354666.3:c.1341C>T | NP_001341595.2:p.His447= | |
| NM_001354667.3:c.1341C>T | NP_001341596.2:p.His447= | |
| NM_001374261.3:c.*143C>T | NP_001361190.2:n.*143C>T | |
| NM_001374262.3:c.*143C>T | NP_001361191.2:n.*143C>T | |
| NM_001374263.2:c.1341C>T | NP_001361192.2:p.His447= | |
| NM_001374264.2:c.1341C>T | NP_001361193.2:p.His447= | |
| NM_005037.7:c.1341C>T | NP_005028.5:p.His447= | |
| NM_138711.6:c.1341C>T MANE Select | NP_619725.3:p.His447= | |
| NM_138712.5:c.1341C>T | NP_619726.3:p.His447= |