Linked Data
ClinVar Variation Id:
141402
dbSNP Id:
rs542698396
gnomAD v2:
17-59760756-C-A
gnomAD v3:
17-61683395-C-A
gnomAD v4:
17-61683395-C-A
PubMed:
PMID:26976419
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61683395C>A , CM000679.2:g.61683395C>A | GRCh38 |
| NC_000017.10:g.59760756C>A , CM000679.1:g.59760756C>A | GRCh37 |
| NC_000017.9:g.57115538C>A | NCBI36 |
| NG_007409.2:g.185165G>T , LRG_300:g.185165G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682073.1:n.2391G>T | ||
| ENST00000682453.1:c.3651G>T | ENSP00000506943.1:p.Trp1217Cys | |
| ENST00000682477.1:c.*3077G>T | ENSP00000507075.1:n.*3077G>T | |
| ENST00000682589.1:n.9528G>T | ||
| ENST00000682755.1:c.3429G>T | ENSP00000507660.1:p.Trp1143Cys | |
| ENST00000682989.1:c.*742G>T | ENSP00000507786.1:n.*742G>T | |
| ENST00000683039.1:c.3651G>T | ENSP00000508303.1:p.Trp1217Cys | |
| ENST00000683235.1:c.*1066G>T | ENSP00000507646.1:n.*1066G>T | |
| ENST00000683535.1:n.1781G>T | ||
| ENST00000684584.1:c.2814G>T | ENSP00000508044.1:p.Trp938Cys | |
| ENST00000684626.1:n.1897G>T | ||
| ENST00000684769.1:c.1841G>T | ENSP00000507691.1:n.1841G>T | |
| ENST00000259008.7:c.3651G>T MANE Select | ENSP00000259008.2:p.Trp1217Cys | |
| ENST00000259008.6:c.3651G>T | ENSP00000259008.2:p.Trp1217Cys | |
| NM_032043.2:c.3651G>T , LRG_300t1:c.3651G>T | NP_114432.2:p.Trp1217Cys | |
| XM_011525332.1:c.3711G>T | XP_011523634.1:p.Trp1237Cys | |
| XM_011525333.1:c.3711G>T | XP_011523635.1:p.Trp1237Cys | |
| XM_011525334.1:c.3711G>T | XP_011523636.1:p.Trp1237Cys | |
| XM_011525335.1:c.3651G>T | XP_011523637.1:p.Trp1217Cys | |
| XM_011525336.1:c.3591G>T | XP_011523638.1:p.Trp1197Cys | |
| XM_011525337.1:c.3510G>T | XP_011523639.1:p.Trp1170Cys | |
| XM_011525338.1:c.3228G>T | XP_011523640.1:p.Trp1076Cys | |
| XM_011525332.3:c.3711G>T | XP_011523634.1:p.Trp1237Cys | |
| XM_011525333.3:c.3711G>T | XP_011523635.1:p.Trp1237Cys | |
| XM_011525334.2:c.3711G>T | XP_011523636.1:p.Trp1237Cys | |
| XM_011525335.3:c.3651G>T | XP_011523637.1:p.Trp1217Cys | |
| XM_011525336.2:c.3591G>T | XP_011523638.1:p.Trp1197Cys | |
| XM_011525337.2:c.3510G>T | XP_011523639.1:p.Trp1170Cys | |
| XM_011525338.2:c.3228G>T | XP_011523640.1:p.Trp1076Cys | |
| XM_017025200.1:c.3168G>T | XP_016880689.1:p.Trp1056Cys | |
| XM_017025201.1:c.3168G>T | XP_016880690.1:p.Trp1056Cys | |
| XM_017025202.1:c.1797G>T | XP_016880691.1:p.Trp599Cys | |
| XM_017025203.1:c.1797G>T | XP_016880692.1:p.Trp599Cys | |
| NM_032043.3:c.3651G>T MANE Select | NP_114432.2:p.Trp1217Cys |