Linked Data
dbSNP Id:
rs10889676
gnomAD v2:
1-67722567-C-T
gnomAD v3:
1-67256884-C-T
gnomAD v4:
1-67256884-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.67256884C>T , CM000663.2:g.67256884C>T | GRCh38 |
| NC_000001.10:g.67722567C>T , CM000663.1:g.67722567C>T | GRCh37 |
| NC_000001.9:g.67495155C>T | NCBI36 |
| NG_011498.1:g.95399C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697148.1:c.1115+957C>T | ENSP00000513137.1:n.1115+957C>T | |
| ENST00000697149.1:c.1078+957C>T | ENSP00000513138.1:n.1078+957C>T | |
| ENST00000697150.1:c.1136+957C>T | ENSP00000513139.1:n.1136+957C>T | |
| ENST00000697151.1:c.1136+957C>T | ENSP00000513140.1:n.1136+957C>T | |
| ENST00000697152.1:c.889+957C>T | ENSP00000513141.1:n.889+957C>T | |
| ENST00000697153.1:c.885+957C>T | ENSP00000513142.1:n.885+957C>T | |
| ENST00000697154.1:c.956-1594C>T | ENSP00000513143.1:n.956-1594C>T | |
| ENST00000697155.1:c.649-1594C>T | ENSP00000513144.1:n.649-1594C>T | |
| ENST00000697156.1:c.1372+957C>T | ENSP00000513145.1:n.1372+957C>T | |
| ENST00000697157.1:c.1093+957C>T | ENSP00000513146.1:n.1093+957C>T | |
| ENST00000697158.1:c.1082+957C>T | ENSP00000513147.1:n.1082+957C>T | |
| ENST00000697159.1:c.932+957C>T | ENSP00000513148.1:n.932+957C>T | |
| ENST00000697160.1:c.1046+957C>T | ENSP00000513149.1:n.1046+957C>T | |
| ENST00000697161.1:c.775+957C>T | ENSP00000513150.1:n.775+957C>T | |
| ENST00000697162.1:c.1168+957C>T | ENSP00000513151.1:n.1168+957C>T | |
| ENST00000697163.1:c.1239+957C>T | ENSP00000513152.1:n.1239+957C>T | |
| ENST00000697164.1:c.1149+957C>T | ENSP00000513153.1:n.1149+957C>T | |
| ENST00000697165.1:c.936+957C>T | ENSP00000513154.1:n.936+957C>T | |
| ENST00000697223.1:c.988+957C>T | ENSP00000513190.1:n.988+957C>T | |
| ENST00000697224.1:c.975+957C>T | ENSP00000513191.1:n.975+957C>T | |
| ENST00000697225.1:c.842+957C>T | ENSP00000513192.1:n.842+957C>T | |
| ENST00000697226.1:c.829+957C>T | ENSP00000513193.1:n.829+957C>T | |
| ENST00000697227.1:c.1075+957C>T | ENSP00000513194.1:n.1075+957C>T | |
| ENST00000697228.1:c.931+957C>T | ENSP00000513195.1:n.931+957C>T | |
| ENST00000697229.1:c.975+957C>T | ENSP00000513196.1:n.975+957C>T | |
| ENST00000697230.1:c.1149+957C>T | ENSP00000513197.1:n.1149+957C>T | |
| ENST00000697231.1:c.1144+957C>T | ENSP00000513198.1:n.1144+957C>T | |
| ENST00000697232.1:c.1330+957C>T | ENSP00000513199.1:n.1330+957C>T | |
| ENST00000347310.10:c.1239+957C>T MANE Select | ENSP00000321345.5:n.1239+957C>T | |
| ENST00000637002.1:c.630+957C>T | ENSP00000490340.1:n.630+957C>T | |
| ENST00000347310.9:c.1239+957C>T | ENSP00000321345.5:n.1239+957C>T | |
| ENST00000395227.2:c.33+957C>T | ENSP00000378652.2:n.33+957C>T | |
| ENST00000425614.3:c.474+957C>T | ENSP00000387640.2:n.474+957C>T | |
| ENST00000473881.2:c.*65+957C>T | ENSP00000486667.1:n.*65+957C>T | |
| NM_144701.2:c.1239+957C>T | NP_653302.2:n.1239+957C>T | |
| XM_005270516.2:c.477+957C>T | XP_005270573.1:n.477+957C>T | |
| XM_011540789.1:c.1329+957C>T | XP_011539091.1:n.1329+957C>T | |
| XM_011540790.1:c.1239+957C>T | XP_011539092.1:n.1239+957C>T | |
| XM_011540791.1:c.1239+957C>T | XP_011539093.1:n.1239+957C>T | |
| XM_011540790.3:c.1239+957C>T | XP_011539092.1:n.1239+957C>T | |
| XM_011540791.3:c.1239+957C>T | XP_011539093.1:n.1239+957C>T | |
| XR_001736993.1:n.1319+957C>T | ||
| NM_144701.3:c.1239+957C>T MANE Select | NP_653302.2:n.1239+957C>T |