Linked Data
ClinVar Variation Id:
232157
dbSNP Id:
rs183928474
ExAC:
17:59761183 G / A
gnomAD v3:
17-61683822-G-A
gnomAD v4:
17-61683822-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61683822G>A , CM000679.2:g.61683822G>A | GRCh38 |
| NC_000017.10:g.59761183G>A , CM000679.1:g.59761183G>A | GRCh37 |
| NC_000017.9:g.57115965G>A | NCBI36 |
| NG_007409.2:g.184738C>T , LRG_300:g.184738C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682073.1:n.1964C>T | ||
| ENST00000682453.1:c.3224C>T | ENSP00000506943.1:p.Ser1075Leu | |
| ENST00000682477.1:c.*2650C>T | ENSP00000507075.1:n.*2650C>T | |
| ENST00000682589.1:n.9101C>T | ||
| ENST00000682755.1:c.3002C>T | ENSP00000507660.1:p.Ser1001Leu | |
| ENST00000682989.1:c.*315C>T | ENSP00000507786.1:n.*315C>T | |
| ENST00000683039.1:c.3224C>T | ENSP00000508303.1:p.Ser1075Leu | |
| ENST00000683235.1:c.*639C>T | ENSP00000507646.1:n.*639C>T | |
| ENST00000683535.1:n.1354C>T | ||
| ENST00000684584.1:c.2387C>T | ENSP00000508044.1:p.Ser796Leu | |
| ENST00000684626.1:n.1470C>T | ||
| ENST00000684769.1:c.1414C>T | ENSP00000507691.1:n.1414C>T | |
| ENST00000259008.7:c.3224C>T MANE Select | ENSP00000259008.2:p.Ser1075Leu | |
| ENST00000259008.6:c.3224C>T | ENSP00000259008.2:p.Ser1075Leu | |
| NM_032043.2:c.3224C>T , LRG_300t1:c.3224C>T | NP_114432.2:p.Ser1075Leu | |
| XM_011525332.1:c.3284C>T | XP_011523634.1:p.Ser1095Leu | |
| XM_011525333.1:c.3284C>T | XP_011523635.1:p.Ser1095Leu | |
| XM_011525334.1:c.3284C>T | XP_011523636.1:p.Ser1095Leu | |
| XM_011525335.1:c.3224C>T | XP_011523637.1:p.Ser1075Leu | |
| XM_011525336.1:c.3164C>T | XP_011523638.1:p.Ser1055Leu | |
| XM_011525337.1:c.3083C>T | XP_011523639.1:p.Ser1028Leu | |
| XM_011525338.1:c.2801C>T | XP_011523640.1:p.Ser934Leu | |
| XM_011525332.3:c.3284C>T | XP_011523634.1:p.Ser1095Leu | |
| XM_011525333.3:c.3284C>T | XP_011523635.1:p.Ser1095Leu | |
| XM_011525334.2:c.3284C>T | XP_011523636.1:p.Ser1095Leu | |
| XM_011525335.3:c.3224C>T | XP_011523637.1:p.Ser1075Leu | |
| XM_011525336.2:c.3164C>T | XP_011523638.1:p.Ser1055Leu | |
| XM_011525337.2:c.3083C>T | XP_011523639.1:p.Ser1028Leu | |
| XM_011525338.2:c.2801C>T | XP_011523640.1:p.Ser934Leu | |
| XM_017025200.1:c.2741C>T | XP_016880689.1:p.Ser914Leu | |
| XM_017025201.1:c.2741C>T | XP_016880690.1:p.Ser914Leu | |
| XM_017025202.1:c.1370C>T | XP_016880691.1:p.Ser457Leu | |
| XM_017025203.1:c.1370C>T | XP_016880692.1:p.Ser457Leu | |
| NM_032043.3:c.3224C>T MANE Select | NP_114432.2:p.Ser1075Leu |