Linked Data
dbSNP Id:
rs2306402
gnomAD v2:
10-68935485-C-T
gnomAD v3:
10-67175727-C-T
gnomAD v4:
10-67175727-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.67175727C>T , CM000672.2:g.67175727C>T | GRCh38 |
| NC_000010.10:g.68935485C>T , CM000672.1:g.68935485C>T | GRCh37 |
| NC_000010.9:g.68605491C>T | NCBI36 |
| NG_034072.1:g.525465G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682166.1:c.*743+4590G>A | ENSP00000507319.1:n.*743+4590G>A | |
| ENST00000682758.1:c.1047+4590G>A | ENSP00000508047.1:n.1047+4590G>A | |
| ENST00000682945.1:c.1047+4590G>A | ENSP00000506843.1:n.1047+4590G>A | |
| ENST00000683272.1:n.1241+4590G>A | ||
| ENST00000683624.1:c.*743+4590G>A | ENSP00000507406.1:n.*743+4590G>A | |
| ENST00000683771.1:n.572+4590G>A | ||
| ENST00000683963.1:c.*571+4590G>A | ENSP00000507029.1:n.*571+4590G>A | |
| ENST00000684154.1:c.1047+4590G>A | ENSP00000508371.1:n.1047+4590G>A | |
| ENST00000433211.7:c.1047+4590G>A MANE Select | ENSP00000389714.1:n.1047+4590G>A | |
| ENST00000433211.6:c.1047+4590G>A | ENSP00000389714.1:n.1047+4590G>A | |
| ENST00000494580.1:c.127+4590G>A | ||
| NM_001127384.2:c.1047+4590G>A | NP_001120856.1:n.1047+4590G>A | |
| NM_001291133.1:c.*1174G>A | NP_001278062.1:n.*1174G>A | |
| NM_013266.3:c.1047+4590G>A | NP_037398.2:n.1047+4590G>A | |
| XM_005269717.2:c.1083+4590G>A | XP_005269774.1:n.1083+4590G>A | |
| XM_011539721.1:c.1152+4590G>A | XP_011538023.1:n.1152+4590G>A | |
| XM_011539722.1:c.1152+4590G>A | XP_011538024.1:n.1152+4590G>A | |
| XM_011539723.1:c.1116+4590G>A | XP_011538025.1:n.1116+4590G>A | |
| XM_011539724.1:c.1116+4590G>A | XP_011538026.1:n.1116+4590G>A | |
| XM_011539725.1:c.1116+4590G>A | XP_011538027.1:n.1116+4590G>A | |
| XM_011539726.1:c.1083+4590G>A | XP_011538028.1:n.1083+4590G>A | |
| XM_011539727.1:c.1047+4590G>A | XP_011538029.1:n.1047+4590G>A | |
| XM_017016151.1:c.1116+4590G>A | XP_016871640.1:n.1116+4590G>A | |
| XM_017016152.1:c.1152+4590G>A | XP_016871641.1:n.1152+4590G>A | |
| XM_017016153.1:c.1083+4590G>A | XP_016871642.1:n.1083+4590G>A | |
| XM_017016154.1:c.264+4590G>A | XP_016871643.1:n.264+4590G>A | |
| XM_017016155.2:c.264+4590G>A | XP_016871644.1:n.264+4590G>A | |
| XM_017016156.1:c.264+4590G>A | XP_016871645.1:n.264+4590G>A | |
| NM_013266.4:c.1047+4590G>A MANE Select | NP_037398.2:n.1047+4590G>A | |
| NM_001291133.2:c.*1174G>A | NP_001278062.1:n.*1174G>A | |
| NM_001127384.3:c.1047+4590G>A | NP_001120856.1:n.1047+4590G>A |