Linked Data
ClinVar Variation Id:
359285
dbSNP Id:
rs140616632
ExAC:
7:148526807 G / A
gnomAD v2:
7-148526807-G-A
gnomAD v3:
7-148829715-G-A
gnomAD v4:
7-148829715-G-A
COSMIC:
COSM133054
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.148829715G>A , CM000669.2:g.148829715G>A | GRCh38 |
| NC_000007.13:g.148526807G>A , CM000669.1:g.148526807G>A | GRCh37 |
| NC_000007.12:g.148157740G>A | NCBI36 |
| NG_032043.1:g.59635C>T , LRG_531:g.59635C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682263.1:n.632+13C>T | ||
| ENST00000682317.1:c.367+13C>T | ENSP00000508286.1:n.367+13C>T | |
| ENST00000682401.1:n.499+13C>T | ||
| ENST00000683292.1:c.157+13C>T | ENSP00000507503.1:n.157+13C>T | |
| ENST00000683744.1:c.484+13C>T | ENSP00000506949.1:n.484+13C>T | |
| ENST00000684300.1:c.367+13C>T | ENSP00000508407.1:n.367+13C>T | |
| ENST00000320356.7:c.484+13C>T MANE Select | ENSP00000320147.2:n.484+13C>T | |
| ENST00000320356.6:c.484+13C>T | ENSP00000320147.2:n.484+13C>T | |
| ENST00000350995.6:c.367+13C>T | ENSP00000223193.2:n.367+13C>T | |
| ENST00000460911.5:c.484+13C>T | ENSP00000419711.1:n.484+13C>T | |
| ENST00000476773.5:c.457+13C>T | ENSP00000419050.1:n.457+13C>T | |
| ENST00000478654.5:c.457+13C>T | ENSP00000417062.1:n.457+13C>T | |
| ENST00000483012.1:c.*228+13C>T | ENSP00000417704.1:n.*228+13C>T | |
| ENST00000483967.5:c.457+13C>T | ENSP00000419856.1:n.457+13C>T | |
| ENST00000492143.5:c.484+13C>T | ENSP00000417377.1:n.484+13C>T | |
| ENST00000498186.5:n.615+13C>T | ||
| NM_001203247.1:c.484+13C>T | NP_001190176.1:n.484+13C>T | |
| NM_001203248.1:c.457+13C>T | NP_001190177.1:n.457+13C>T | |
| NM_001203249.1:c.457+13C>T | NP_001190178.1:n.457+13C>T | |
| NM_004456.4:c.484+13C>T , LRG_531t1:c.484+13C>T | NP_004447.2:n.484+13C>T | |
| NM_152998.2:c.367+13C>T | NP_694543.1:n.367+13C>T | |
| XM_005249962.3:c.508+13C>T | XP_005250019.1:n.508+13C>T | |
| XM_005249963.3:c.481+13C>T | XP_005250020.1:n.481+13C>T | |
| XM_005249964.3:c.481+13C>T | XP_005250021.1:n.481+13C>T | |
| XM_011515883.1:c.508+13C>T | XP_011514185.1:n.508+13C>T | |
| XM_011515884.1:c.484+13C>T | XP_011514186.1:n.484+13C>T | |
| XM_011515885.1:c.481+13C>T | XP_011514187.1:n.481+13C>T | |
| XM_011515886.1:c.460+13C>T | XP_011514188.1:n.460+13C>T | |
| XM_011515887.1:c.457+13C>T | XP_011514189.1:n.457+13C>T | |
| XM_011515888.1:c.457+13C>T | XP_011514190.1:n.457+13C>T | |
| XM_011515889.1:c.418+13C>T | XP_011514191.1:n.418+13C>T | |
| XM_011515890.1:c.391+13C>T | XP_011514192.1:n.391+13C>T | |
| XM_011515891.1:c.385+13C>T | XP_011514193.1:n.385+13C>T | |
| XM_011515892.1:c.508+13C>T | XP_011514194.1:n.508+13C>T | |
| XM_011515893.1:c.391+13C>T | XP_011514195.1:n.391+13C>T | |
| XM_011515894.1:c.367+13C>T | XP_011514196.1:n.367+13C>T | |
| XM_011515895.1:c.364+13C>T | XP_011514197.1:n.364+13C>T | |
| XM_011515896.1:c.391+13C>T | XP_011514198.1:n.391+13C>T | |
| XM_011515897.1:c.157+13C>T | XP_011514199.1:n.157+13C>T | |
| XM_011515898.1:c.157+13C>T | XP_011514200.1:n.157+13C>T | |
| XM_011515899.1:c.508+13C>T | XP_011514201.1:n.508+13C>T | |
| XM_011515900.1:c.508+13C>T | XP_011514202.1:n.508+13C>T | |
| XM_011515901.1:c.508+13C>T | XP_011514203.1:n.508+13C>T | |
| XM_011515902.1:c.508+13C>T | XP_011514204.1:n.508+13C>T | |
| XM_005249962.4:c.508+13C>T | XP_005250019.1:n.508+13C>T | |
| XM_005249963.4:c.481+13C>T | XP_005250020.1:n.481+13C>T | |
| XM_005249964.4:c.481+13C>T | XP_005250021.1:n.481+13C>T | |
| XM_011515883.2:c.508+13C>T | XP_011514185.1:n.508+13C>T | |
| XM_011515884.2:c.484+13C>T | XP_011514186.1:n.484+13C>T | |
| XM_011515885.2:c.481+13C>T | XP_011514187.1:n.481+13C>T | |
| XM_011515886.2:c.460+13C>T | XP_011514188.1:n.460+13C>T | |
| XM_011515887.3:c.457+13C>T | XP_011514189.1:n.457+13C>T | |
| XM_011515888.2:c.457+13C>T | XP_011514190.1:n.457+13C>T | |
| XM_011515889.2:c.418+13C>T | XP_011514191.1:n.418+13C>T | |
| XM_011515890.2:c.391+13C>T | XP_011514192.1:n.391+13C>T | |
| XM_011515891.3:c.385+13C>T | XP_011514193.1:n.385+13C>T | |
| XM_011515892.2:c.508+13C>T | XP_011514194.1:n.508+13C>T | |
| XM_011515893.2:c.391+13C>T | XP_011514195.1:n.391+13C>T | |
| XM_011515894.2:c.367+13C>T | XP_011514196.1:n.367+13C>T | |
| XM_011515895.2:c.364+13C>T | XP_011514197.1:n.364+13C>T | |
| XM_011515896.2:c.391+13C>T | XP_011514198.1:n.391+13C>T | |
| XM_011515897.2:c.157+13C>T | XP_011514199.1:n.157+13C>T | |
| XM_011515898.2:c.157+13C>T | XP_011514200.1:n.157+13C>T | |
| XM_011515899.3:c.508+13C>T | XP_011514201.1:n.508+13C>T | |
| XM_011515901.3:c.508+13C>T | XP_011514203.1:n.508+13C>T | |
| XM_017011817.2:c.508+13C>T | XP_016867306.1:n.508+13C>T | |
| XM_017011818.1:c.460+13C>T | XP_016867307.1:n.460+13C>T | |
| XM_017011819.1:c.508+13C>T | XP_016867308.1:n.508+13C>T | |
| XM_017011820.2:c.340+13C>T | XP_016867309.1:n.340+13C>T | |
| XM_017011821.1:c.157+13C>T | XP_016867310.1:n.157+13C>T | |
| XM_024446680.1:c.385+13C>T | XP_024302448.1:n.385+13C>T | |
| XR_001744581.1:n.3123+13C>T | ||
| XR_002956413.1:n.3121+13C>T | ||
| XR_002956414.1:n.3123+13C>T | ||
| NM_001203247.2:c.484+13C>T | NP_001190176.1:n.484+13C>T | |
| NM_001203248.2:c.457+13C>T | NP_001190177.1:n.457+13C>T | |
| NM_001203249.2:c.457+13C>T | NP_001190178.1:n.457+13C>T | |
| NM_004456.5:c.484+13C>T MANE Select | NP_004447.2:n.484+13C>T | |
| NM_152998.3:c.367+13C>T | NP_694543.1:n.367+13C>T |