Linked Data
ClinVar Variation Id:
158584
ClinVar RCV Id:
RCV000145978
dbSNP Id:
rs587783627
gnomAD v4:
7-148807666-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.148807666T>C , CM000669.2:g.148807666T>C | GRCh38 |
| NC_000007.13:g.148504758T>C , CM000669.1:g.148504758T>C | GRCh37 |
| NC_000007.12:g.148135691T>C | NCBI36 |
| NG_032043.1:g.81684A>G , LRG_531:g.81684A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682263.1:n.4136A>G | ||
| ENST00000682317.1:c.*1298A>G | ENSP00000508286.1:n.*1298A>G | |
| ENST00000683292.1:c.*1132A>G | ENSP00000507503.1:n.*1132A>G | |
| ENST00000683293.1:n.3955A>G | ||
| ENST00000683744.1:c.*1298A>G | ENSP00000506949.1:n.*1298A>G | |
| ENST00000684300.1:c.*1298A>G | ENSP00000508407.1:n.*1298A>G | |
| ENST00000684400.1:n.4223A>G | ||
| ENST00000684436.1:n.2552A>G | ||
| ENST00000684510.1:n.2614A>G | ||
| ENST00000320356.7:c.2236A>G MANE Select | ENSP00000320147.2:p.Arg746Gly | |
| ENST00000320356.6:c.2236A>G | ENSP00000320147.2:p.Arg746Gly | |
| ENST00000350995.6:c.2104A>G | ENSP00000223193.2:p.Arg702Gly | |
| ENST00000460911.5:c.2221A>G | ENSP00000419711.1:p.Arg741Gly | |
| ENST00000476773.5:c.2068A>G | ENSP00000419050.1:p.Arg690Gly | |
| ENST00000478654.5:c.2068A>G | ENSP00000417062.1:p.Arg690Gly | |
| ENST00000483967.5:c.2194A>G | ENSP00000419856.1:p.Arg732Gly | |
| ENST00000492143.5:c.*2226A>G | ENSP00000417377.1:n.*2226A>G | |
| NM_001203247.1:c.2221A>G | NP_001190176.1:p.Arg741Gly | |
| NM_001203248.1:c.2194A>G | NP_001190177.1:p.Arg732Gly | |
| NM_001203249.1:c.2068A>G | NP_001190178.1:p.Arg690Gly | |
| NM_004456.4:c.2236A>G , LRG_531t1:c.2236A>G | NP_004447.2:p.Arg746Gly | |
| NM_152998.2:c.2104A>G | NP_694543.1:p.Arg702Gly | |
| XM_005249962.3:c.2245A>G | XP_005250019.1:p.Arg749Gly | |
| XM_005249963.3:c.2218A>G | XP_005250020.1:p.Arg740Gly | |
| XM_005249964.3:c.2092A>G | XP_005250021.1:p.Arg698Gly | |
| XM_011515883.1:c.2260A>G | XP_011514185.1:p.Arg754Gly | |
| XM_011515884.1:c.2236A>G | XP_011514186.1:p.Arg746Gly | |
| XM_011515885.1:c.2233A>G | XP_011514187.1:p.Arg745Gly | |
| XM_011515886.1:c.2212A>G | XP_011514188.1:p.Arg738Gly | |
| XM_011515887.1:c.2209A>G | XP_011514189.1:p.Arg737Gly | |
| XM_011515888.1:c.2209A>G | XP_011514190.1:p.Arg737Gly | |
| XM_011515889.1:c.2170A>G | XP_011514191.1:p.Arg724Gly | |
| XM_011515890.1:c.2143A>G | XP_011514192.1:p.Arg715Gly | |
| XM_011515891.1:c.2137A>G | XP_011514193.1:p.Arg713Gly | |
| XM_011515892.1:c.2134A>G | XP_011514194.1:p.Arg712Gly | |
| XM_011515893.1:c.2128A>G | XP_011514195.1:p.Arg710Gly | |
| XM_011515894.1:c.2119A>G | XP_011514196.1:p.Arg707Gly | |
| XM_011515895.1:c.2116A>G | XP_011514197.1:p.Arg706Gly | |
| XM_011515896.1:c.2002A>G | XP_011514198.1:p.Arg668Gly | |
| XM_011515897.1:c.1909A>G | XP_011514199.1:p.Arg637Gly | |
| XM_011515898.1:c.1909A>G | XP_011514200.1:p.Arg637Gly | |
| XR_928101.1:n.515+2581T>C | ||
| XR_928102.1:n.722+2581T>C | ||
| XM_005249962.4:c.2245A>G | XP_005250019.1:p.Arg749Gly | |
| XM_005249963.4:c.2218A>G | XP_005250020.1:p.Arg740Gly | |
| XM_005249964.4:c.2092A>G | XP_005250021.1:p.Arg698Gly | |
| XM_011515883.2:c.2260A>G | XP_011514185.1:p.Arg754Gly | |
| XM_011515884.2:c.2236A>G | XP_011514186.1:p.Arg746Gly | |
| XM_011515885.2:c.2233A>G | XP_011514187.1:p.Arg745Gly | |
| XM_011515886.2:c.2212A>G | XP_011514188.1:p.Arg738Gly | |
| XM_011515887.3:c.2209A>G | XP_011514189.1:p.Arg737Gly | |
| XM_011515888.2:c.2209A>G | XP_011514190.1:p.Arg737Gly | |
| XM_011515889.2:c.2170A>G | XP_011514191.1:p.Arg724Gly | |
| XM_011515890.2:c.2143A>G | XP_011514192.1:p.Arg715Gly | |
| XM_011515891.3:c.2137A>G | XP_011514193.1:p.Arg713Gly | |
| XM_011515892.2:c.2134A>G | XP_011514194.1:p.Arg712Gly | |
| XM_011515893.2:c.2128A>G | XP_011514195.1:p.Arg710Gly | |
| XM_011515894.2:c.2119A>G | XP_011514196.1:p.Arg707Gly | |
| XM_011515895.2:c.2116A>G | XP_011514197.1:p.Arg706Gly | |
| XM_011515896.2:c.2002A>G | XP_011514198.1:p.Arg668Gly | |
| XM_011515897.2:c.1909A>G | XP_011514199.1:p.Arg637Gly | |
| XM_011515898.2:c.1909A>G | XP_011514200.1:p.Arg637Gly | |
| XM_017011817.2:c.2260A>G | XP_016867306.1:p.Arg754Gly | |
| XM_017011818.1:c.2197A>G | XP_016867307.1:p.Arg733Gly | |
| XM_017011819.1:c.2119A>G | XP_016867308.1:p.Arg707Gly | |
| XM_017011820.2:c.2092A>G | XP_016867309.1:p.Arg698Gly | |
| XM_017011821.1:c.1894A>G | XP_016867310.1:p.Arg632Gly | |
| XM_024446680.1:c.2122A>G | XP_024302448.1:p.Arg708Gly | |
| XR_001744581.1:n.4610A>G | ||
| XR_002956413.1:n.5266A>G | ||
| XR_002956414.1:n.5726A>G | ||
| NM_001203247.2:c.2221A>G | NP_001190176.1:p.Arg741Gly | |
| NM_001203248.2:c.2194A>G | NP_001190177.1:p.Arg732Gly | |
| NM_001203249.2:c.2068A>G | NP_001190178.1:p.Arg690Gly | |
| NM_004456.5:c.2236A>G MANE Select | NP_004447.2:p.Arg746Gly | |
| NM_152998.3:c.2104A>G | NP_694543.1:p.Arg702Gly |