Linked Data
ClinVar Variation Id:
530318
dbSNP Id:
rs1555574772
gnomAD v3:
17-61693470-C-T
gnomAD v4:
17-61693470-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61693470C>T , CM000679.2:g.61693470C>T | GRCh38 |
| NC_000017.10:g.59770831C>T , CM000679.1:g.59770831C>T | GRCh37 |
| NC_000017.9:g.57125613C>T | NCBI36 |
| NG_007409.2:g.175090G>A , LRG_300:g.175090G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682066.1:c.2665G>A | ENSP00000507191.1:n.2665G>A | |
| ENST00000682073.1:n.1275G>A | ||
| ENST00000682433.1:n.1614G>A | ||
| ENST00000682453.1:c.2535G>A | ENSP00000506943.1:p.Val845= | |
| ENST00000682477.1:c.*1961G>A | ENSP00000507075.1:n.*1961G>A | |
| ENST00000682589.1:n.8412G>A | ||
| ENST00000682755.1:c.2313G>A | ENSP00000507660.1:p.Val771= | |
| ENST00000682989.1:c.2493-4998G>A | ENSP00000507786.1:n.2493-4998G>A | |
| ENST00000683039.1:c.2535G>A | ENSP00000508303.1:p.Val845= | |
| ENST00000683235.1:c.2493-7305G>A | ENSP00000507646.1:n.2493-7305G>A | |
| ENST00000683535.1:n.665G>A | ||
| ENST00000684471.1:n.948G>A | ||
| ENST00000684584.1:c.2028G>A | ENSP00000508044.1:p.Val676= | |
| ENST00000684626.1:n.822-7305G>A | ||
| ENST00000684769.1:c.600G>A | ENSP00000507691.1:p.Val200= | |
| ENST00000259008.7:c.2535G>A MANE Select | ENSP00000259008.2:p.Val845= | |
| ENST00000259008.6:c.2535G>A | ENSP00000259008.2:p.Val845= | |
| ENST00000577598.5:c.2535G>A | ENSP00000464654.1:p.Val845= | |
| NM_032043.2:c.2535G>A , LRG_300t1:c.2535G>A | NP_114432.2:p.Val845= | |
| XM_011525332.1:c.2595G>A | XP_011523634.1:p.Val865= | |
| XM_011525333.1:c.2595G>A | XP_011523635.1:p.Val865= | |
| XM_011525334.1:c.2595G>A | XP_011523636.1:p.Val865= | |
| XM_011525335.1:c.2535G>A | XP_011523637.1:p.Val845= | |
| XM_011525336.1:c.2475G>A | XP_011523638.1:p.Val825= | |
| XM_011525337.1:c.2394G>A | XP_011523639.1:p.Val798= | |
| XM_011525338.1:c.2112G>A | XP_011523640.1:p.Val704= | |
| XM_011525340.1:c.2553-7305G>A | XP_011523642.1:n.2553-7305G>A | |
| XM_011525332.3:c.2595G>A | XP_011523634.1:p.Val865= | |
| XM_011525333.3:c.2595G>A | XP_011523635.1:p.Val865= | |
| XM_011525334.2:c.2595G>A | XP_011523636.1:p.Val865= | |
| XM_011525335.3:c.2535G>A | XP_011523637.1:p.Val845= | |
| XM_011525336.2:c.2475G>A | XP_011523638.1:p.Val825= | |
| XM_011525337.2:c.2394G>A | XP_011523639.1:p.Val798= | |
| XM_011525338.2:c.2112G>A | XP_011523640.1:p.Val704= | |
| XM_011525340.3:c.2553-7305G>A | XP_011523642.1:n.2553-7305G>A | |
| XM_017025200.1:c.2052G>A | XP_016880689.1:p.Val684= | |
| XM_017025201.1:c.2052G>A | XP_016880690.1:p.Val684= | |
| XM_017025202.1:c.681G>A | XP_016880691.1:p.Val227= | |
| XM_017025203.1:c.681G>A | XP_016880692.1:p.Val227= | |
| NM_032043.3:c.2535G>A MANE Select | NP_114432.2:p.Val845= |