Linked Data
ClinVar Variation Id:
1165542
ClinVar RCV Id:
RCV001512713
dbSNP Id:
rs11465816
ExAC:
1:67705984 C / T
gnomAD v2:
1-67705984-C-T
gnomAD v3:
1-67240301-C-T
gnomAD v4:
1-67240301-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.67240301C>T , CM000663.2:g.67240301C>T | GRCh38 |
| NC_000001.10:g.67705984C>T , CM000663.1:g.67705984C>T | GRCh37 |
| NC_000001.9:g.67478572C>T | NCBI36 |
| NG_011498.1:g.78816C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697148.1:c.1024+20C>T | ENSP00000513137.1:n.1024+20C>T | |
| ENST00000697149.1:c.987+20C>T | ENSP00000513138.1:n.987+20C>T | |
| ENST00000697150.1:c.1045+3499C>T | ENSP00000513139.1:n.1045+3499C>T | |
| ENST00000697151.1:c.1045+3499C>T | ENSP00000513140.1:n.1045+3499C>T | |
| ENST00000697152.1:c.799-15536C>T | ENSP00000513141.1:n.799-15536C>T | |
| ENST00000697153.1:c.795-15536C>T | ENSP00000513142.1:n.795-15536C>T | |
| ENST00000697154.1:c.956-18177C>T | ENSP00000513143.1:n.956-18177C>T | |
| ENST00000697155.1:c.649-18177C>T | ENSP00000513144.1:n.649-18177C>T | |
| ENST00000697156.1:c.1148+20C>T | ENSP00000513145.1:n.1148+20C>T | |
| ENST00000697157.1:c.1002+20C>T | ENSP00000513146.1:n.1002+20C>T | |
| ENST00000697158.1:c.991+20C>T | ENSP00000513147.1:n.991+20C>T | |
| ENST00000697159.1:c.841+20C>T | ENSP00000513148.1:n.841+20C>T | |
| ENST00000697160.1:c.956-15536C>T | ENSP00000513149.1:n.956-15536C>T | |
| ENST00000697161.1:c.684+20C>T | ENSP00000513150.1:n.684+20C>T | |
| ENST00000697162.1:c.1077+20C>T | ENSP00000513151.1:n.1077+20C>T | |
| ENST00000697163.1:c.1148+20C>T | ENSP00000513152.1:n.1148+20C>T | |
| ENST00000697164.1:c.1058+20C>T | ENSP00000513153.1:n.1058+20C>T | |
| ENST00000697165.1:c.845+20C>T | ENSP00000513154.1:n.845+20C>T | |
| ENST00000697223.1:c.897+20C>T | ENSP00000513190.1:n.897+20C>T | |
| ENST00000697224.1:c.884+3499C>T | ENSP00000513191.1:n.884+3499C>T | |
| ENST00000697225.1:c.751+20C>T | ENSP00000513192.1:n.751+20C>T | |
| ENST00000697226.1:c.738+3499C>T | ENSP00000513193.1:n.738+3499C>T | |
| ENST00000697227.1:c.984+20C>T | ENSP00000513194.1:n.984+20C>T | |
| ENST00000697228.1:c.840+20C>T | ENSP00000513195.1:n.840+20C>T | |
| ENST00000697229.1:c.885-15536C>T | ENSP00000513196.1:n.885-15536C>T | |
| ENST00000697230.1:c.1058+20C>T | ENSP00000513197.1:n.1058+20C>T | |
| ENST00000697231.1:c.1053+20C>T | ENSP00000513198.1:n.1053+20C>T | |
| ENST00000697232.1:c.1077+20C>T | ENSP00000513199.1:n.1077+20C>T | |
| ENST00000347310.10:c.1148+20C>T MANE Select | ENSP00000321345.5:n.1148+20C>T | |
| ENST00000637002.1:c.539+20C>T | ENSP00000490340.1:n.539+20C>T | |
| ENST00000347310.9:c.1148+20C>T | ENSP00000321345.5:n.1148+20C>T | |
| ENST00000395227.2:c.-58-15536C>T | ENSP00000378652.2:n.-58-15536C>T | |
| ENST00000425614.3:c.383+20C>T | ENSP00000387640.2:n.383+20C>T | |
| ENST00000473881.2:c.191-15536C>T | ENSP00000486667.1:n.191-15536C>T | |
| NM_144701.2:c.1148+20C>T | NP_653302.2:n.1148+20C>T | |
| XM_005270516.2:c.386+20C>T | XP_005270573.1:n.386+20C>T | |
| XM_011540789.1:c.1238+20C>T | XP_011539091.1:n.1238+20C>T | |
| XM_011540790.1:c.1148+20C>T | XP_011539092.1:n.1148+20C>T | |
| XM_011540791.1:c.1148+20C>T | XP_011539093.1:n.1148+20C>T | |
| XM_011540790.3:c.1148+20C>T | XP_011539092.1:n.1148+20C>T | |
| XM_011540791.3:c.1148+20C>T | XP_011539093.1:n.1148+20C>T | |
| XR_001736993.1:n.1228+3499C>T | ||
| NM_144701.3:c.1148+20C>T MANE Select | NP_653302.2:n.1148+20C>T |