Linked Data
ClinVar Variation Id:
44814
dbSNP Id:
rs121913361
gnomAD v4:
7-140753349-C-A
CIViC:
CA135098
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.140753349C>A , CM000669.2:g.140753349C>A | GRCh38 |
| NC_000007.13:g.140453149C>A , CM000669.1:g.140453149C>A | GRCh37 |
| NC_000007.12:g.140099618C>A | NCBI36 |
| NG_007873.3:g.176416G>T , LRG_299:g.176416G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646891.2:c.1786G>T MANE Select | ENSP00000493543.1:p.Gly596Cys | |
| ENST00000288602.11:c.1906G>T | ENSP00000288602.7:p.Gly636Cys | |
| ENST00000479537.6:c.456G>T | ||
| ENST00000496384.7:c.1786G>T | ENSP00000419060.2:p.Gly596Cys | |
| ENST00000497784.2:c.*1236G>T | ENSP00000420119.2:n.*1236G>T | |
| ENST00000642228.1:c.*864G>T | ENSP00000493678.1:n.*864G>T | |
| ENST00000642875.1:n.1259-3931G>T | ||
| ENST00000644120.1:n.2176G>T | ||
| ENST00000644650.1:c.882G>T | ||
| ENST00000644905.1:n.2668G>T | ||
| ENST00000644969.2:c.1906G>T MANE Plus Clinical | ENSP00000496776.1:p.Gly636Cys | |
| ENST00000646730.1:c.*362G>T | ENSP00000494784.1:n.*362G>T | |
| ENST00000646891.1:c.1786G>T | ENSP00000493543.1:p.Gly596Cys | |
| ENST00000647434.1:c.738-3931G>T | ENSP00000495132.1:n.738-3931G>T | |
| ENST00000288602.10:c.1786G>T | ENSP00000288602.6:p.Gly596Cys | |
| ENST00000479537.5:c.70G>T | ENSP00000418033.1:p.Gly24Cys | |
| ENST00000496384.6:c.609G>T | ||
| ENST00000497784.1:c.1821G>T | ENSP00000420119.1:n.1821G>T | |
| NM_004333.4:c.1786G>T , LRG_299t1:c.1786G>T | NP_004324.2:p.Gly596Cys | |
| XM_005250045.1:c.1786G>T | XP_005250102.1:p.Gly596Cys | |
| XM_005250046.1:c.1786G>T | XP_005250103.1:p.Gly596Cys | |
| XM_011516529.1:c.1786G>T | XP_011514831.1:p.Gly596Cys | |
| XM_011516530.1:c.1695-3931G>T | XP_011514832.1:n.1695-3931G>T | |
| XR_242190.1:n.1794G>T | ||
| XR_927520.1:n.1794G>T | ||
| XR_927521.1:n.1794G>T | ||
| XR_927522.1:n.1703-3931G>T | ||
| XR_927523.1:n.1703-3931G>T | ||
| NM_001354609.1:c.1786G>T | NP_001341538.1:p.Gly596Cys | |
| NM_004333.5:c.1786G>T | NP_004324.2:p.Gly596Cys | |
| NR_148928.1:n.2884G>T | ||
| XM_017012558.1:c.1906G>T | XP_016868047.1:p.Gly636Cys | |
| XM_017012559.1:c.1906G>T | XP_016868048.1:p.Gly636Cys | |
| XR_001744857.1:n.1914G>T | ||
| XR_001744858.1:n.1823-3931G>T | ||
| NM_001354609.2:c.1786G>T | NP_001341538.1:p.Gly596Cys | |
| NM_001374244.1:c.1906G>T | NP_001361173.1:p.Gly636Cys | |
| NM_001374258.1:c.1906G>T MANE Plus Clinical | NP_001361187.1:p.Gly636Cys | |
| NM_004333.6:c.1786G>T MANE Select | NP_004324.2:p.Gly596Cys | |
| NM_001378467.1:c.1795G>T | NP_001365396.1:p.Gly599Cys | |
| NM_001378468.1:c.1786G>T | NP_001365397.1:p.Gly596Cys | |
| NM_001378469.1:c.1720G>T | NP_001365398.1:p.Gly574Cys | |
| NM_001378470.1:c.1684G>T | NP_001365399.1:p.Gly562Cys | |
| NM_001378471.1:c.1675G>T | NP_001365400.1:p.Gly559Cys | |
| NM_001378472.1:c.1630G>T | NP_001365401.1:p.Gly544Cys | |
| NM_001378473.1:c.1630G>T | NP_001365402.1:p.Gly544Cys | |
| NM_001378474.1:c.1786G>T | NP_001365403.1:p.Gly596Cys | |
| NM_001378475.1:c.1522G>T | NP_001365404.1:p.Gly508Cys |