Linked Data
ClinVar Variation Id:
461155
dbSNP Id:
rs752850661
ExAC:
17:59760874 T / A
gnomAD v2:
17-59760874-T-A
gnomAD v3:
17-61683513-T-A
gnomAD v4:
17-61683513-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61683513T>A , CM000679.2:g.61683513T>A | GRCh38 |
| NC_000017.10:g.59760874T>A , CM000679.1:g.59760874T>A | GRCh37 |
| NC_000017.9:g.57115656T>A | NCBI36 |
| NG_007409.2:g.185047A>T , LRG_300:g.185047A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682073.1:n.2273A>T | ||
| ENST00000682453.1:c.3533A>T | ENSP00000506943.1:p.Glu1178Val | |
| ENST00000682477.1:c.*2959A>T | ENSP00000507075.1:n.*2959A>T | |
| ENST00000682589.1:n.9410A>T | ||
| ENST00000682755.1:c.3311A>T | ENSP00000507660.1:p.Glu1104Val | |
| ENST00000682989.1:c.*624A>T | ENSP00000507786.1:n.*624A>T | |
| ENST00000683039.1:c.3533A>T | ENSP00000508303.1:p.Glu1178Val | |
| ENST00000683235.1:c.*948A>T | ENSP00000507646.1:n.*948A>T | |
| ENST00000683535.1:n.1663A>T | ||
| ENST00000684584.1:c.2696A>T | ENSP00000508044.1:p.Glu899Val | |
| ENST00000684626.1:n.1779A>T | ||
| ENST00000684769.1:c.1723A>T | ENSP00000507691.1:n.1723A>T | |
| ENST00000259008.7:c.3533A>T MANE Select | ENSP00000259008.2:p.Glu1178Val | |
| ENST00000259008.6:c.3533A>T | ENSP00000259008.2:p.Glu1178Val | |
| NM_032043.2:c.3533A>T , LRG_300t1:c.3533A>T | NP_114432.2:p.Glu1178Val | |
| XM_011525332.1:c.3593A>T | XP_011523634.1:p.Glu1198Val | |
| XM_011525333.1:c.3593A>T | XP_011523635.1:p.Glu1198Val | |
| XM_011525334.1:c.3593A>T | XP_011523636.1:p.Glu1198Val | |
| XM_011525335.1:c.3533A>T | XP_011523637.1:p.Glu1178Val | |
| XM_011525336.1:c.3473A>T | XP_011523638.1:p.Glu1158Val | |
| XM_011525337.1:c.3392A>T | XP_011523639.1:p.Glu1131Val | |
| XM_011525338.1:c.3110A>T | XP_011523640.1:p.Glu1037Val | |
| XM_011525332.3:c.3593A>T | XP_011523634.1:p.Glu1198Val | |
| XM_011525333.3:c.3593A>T | XP_011523635.1:p.Glu1198Val | |
| XM_011525334.2:c.3593A>T | XP_011523636.1:p.Glu1198Val | |
| XM_011525335.3:c.3533A>T | XP_011523637.1:p.Glu1178Val | |
| XM_011525336.2:c.3473A>T | XP_011523638.1:p.Glu1158Val | |
| XM_011525337.2:c.3392A>T | XP_011523639.1:p.Glu1131Val | |
| XM_011525338.2:c.3110A>T | XP_011523640.1:p.Glu1037Val | |
| XM_017025200.1:c.3050A>T | XP_016880689.1:p.Glu1017Val | |
| XM_017025201.1:c.3050A>T | XP_016880690.1:p.Glu1017Val | |
| XM_017025202.1:c.1679A>T | XP_016880691.1:p.Glu560Val | |
| XM_017025203.1:c.1679A>T | XP_016880692.1:p.Glu560Val | |
| NM_032043.3:c.3533A>T MANE Select | NP_114432.2:p.Glu1178Val |