Linked Data
dbSNP Id:
rs1343151
gnomAD v2:
1-67719129-G-A
gnomAD v3:
1-67253446-G-A
gnomAD v4:
1-67253446-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.67253446G>A , CM000663.2:g.67253446G>A | GRCh38 |
| NC_000001.10:g.67719129G>A , CM000663.1:g.67719129G>A | GRCh37 |
| NC_000001.9:g.67491717G>A | NCBI36 |
| NG_011498.1:g.91961G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697148.1:c.1025-2391G>A | ENSP00000513137.1:n.1025-2391G>A | |
| ENST00000697149.1:c.988-2391G>A | ENSP00000513138.1:n.988-2391G>A | |
| ENST00000697150.1:c.1046-2391G>A | ENSP00000513139.1:n.1046-2391G>A | |
| ENST00000697151.1:c.1046-2391G>A | ENSP00000513140.1:n.1046-2391G>A | |
| ENST00000697152.1:c.799-2391G>A | ENSP00000513141.1:n.799-2391G>A | |
| ENST00000697153.1:c.795-2391G>A | ENSP00000513142.1:n.795-2391G>A | |
| ENST00000697154.1:c.956-5032G>A | ENSP00000513143.1:n.956-5032G>A | |
| ENST00000697155.1:c.649-5032G>A | ENSP00000513144.1:n.649-5032G>A | |
| ENST00000697156.1:c.1281+1378G>A | ENSP00000513145.1:n.1281+1378G>A | |
| ENST00000697157.1:c.1003-2391G>A | ENSP00000513146.1:n.1003-2391G>A | |
| ENST00000697158.1:c.992-2391G>A | ENSP00000513147.1:n.992-2391G>A | |
| ENST00000697159.1:c.842-2391G>A | ENSP00000513148.1:n.842-2391G>A | |
| ENST00000697160.1:c.956-2391G>A | ENSP00000513149.1:n.956-2391G>A | |
| ENST00000697161.1:c.685-2391G>A | ENSP00000513150.1:n.685-2391G>A | |
| ENST00000697162.1:c.1078-2391G>A | ENSP00000513151.1:n.1078-2391G>A | |
| ENST00000697163.1:c.1149-2391G>A | ENSP00000513152.1:n.1149-2391G>A | |
| ENST00000697164.1:c.1059-2391G>A | ENSP00000513153.1:n.1059-2391G>A | |
| ENST00000697165.1:c.846-2391G>A | ENSP00000513154.1:n.846-2391G>A | |
| ENST00000697223.1:c.898-2391G>A | ENSP00000513190.1:n.898-2391G>A | |
| ENST00000697224.1:c.885-2391G>A | ENSP00000513191.1:n.885-2391G>A | |
| ENST00000697225.1:c.752-2391G>A | ENSP00000513192.1:n.752-2391G>A | |
| ENST00000697226.1:c.739-2391G>A | ENSP00000513193.1:n.739-2391G>A | |
| ENST00000697227.1:c.985-2391G>A | ENSP00000513194.1:n.985-2391G>A | |
| ENST00000697228.1:c.841-2391G>A | ENSP00000513195.1:n.841-2391G>A | |
| ENST00000697229.1:c.885-2391G>A | ENSP00000513196.1:n.885-2391G>A | |
| ENST00000697230.1:c.1059-2391G>A | ENSP00000513197.1:n.1059-2391G>A | |
| ENST00000697231.1:c.1054-2391G>A | ENSP00000513198.1:n.1054-2391G>A | |
| ENST00000697232.1:c.1240-2391G>A | ENSP00000513199.1:n.1240-2391G>A | |
| ENST00000347310.10:c.1149-2391G>A MANE Select | ENSP00000321345.5:n.1149-2391G>A | |
| ENST00000637002.1:c.540-2391G>A | ENSP00000490340.1:n.540-2391G>A | |
| ENST00000347310.9:c.1149-2391G>A | ENSP00000321345.5:n.1149-2391G>A | |
| ENST00000395227.2:c.-58-2391G>A | ENSP00000378652.2:n.-58-2391G>A | |
| ENST00000425614.3:c.384-2391G>A | ENSP00000387640.2:n.384-2391G>A | |
| ENST00000473881.2:c.191-2391G>A | ENSP00000486667.1:n.191-2391G>A | |
| NM_144701.2:c.1149-2391G>A | NP_653302.2:n.1149-2391G>A | |
| XM_005270516.2:c.387-2391G>A | XP_005270573.1:n.387-2391G>A | |
| XM_011540789.1:c.1239-2391G>A | XP_011539091.1:n.1239-2391G>A | |
| XM_011540790.1:c.1149-2391G>A | XP_011539092.1:n.1149-2391G>A | |
| XM_011540791.1:c.1149-2391G>A | XP_011539093.1:n.1149-2391G>A | |
| XM_011540790.3:c.1149-2391G>A | XP_011539092.1:n.1149-2391G>A | |
| XM_011540791.3:c.1149-2391G>A | XP_011539093.1:n.1149-2391G>A | |
| XR_001736993.1:n.1229-2391G>A | ||
| NM_144701.3:c.1149-2391G>A MANE Select | NP_653302.2:n.1149-2391G>A |