Linked Data
ClinVar Variation Id:
418096
dbSNP Id:
rs786203451
gnomAD v2:
17-59770874-C-T
gnomAD v4:
17-61693513-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61693513C>T , CM000679.2:g.61693513C>T | GRCh38 |
| NC_000017.10:g.59770874C>T , CM000679.1:g.59770874C>T | GRCh37 |
| NC_000017.9:g.57125656C>T | NCBI36 |
| NG_007409.2:g.175047G>A , LRG_300:g.175047G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682066.1:c.2623-1G>A | ENSP00000507191.1:n.2623-1G>A | |
| ENST00000682073.1:n.1233-1G>A | ||
| ENST00000682433.1:n.1572-1G>A | ||
| ENST00000682453.1:c.2493-1G>A | ENSP00000506943.1:n.2493-1G>A | |
| ENST00000682477.1:c.*1919-1G>A | ENSP00000507075.1:n.*1919-1G>A | |
| ENST00000682589.1:n.8370-1G>A | ||
| ENST00000682755.1:c.2271-1G>A | ENSP00000507660.1:n.2271-1G>A | |
| ENST00000682989.1:c.2493-5041G>A | ENSP00000507786.1:n.2493-5041G>A | |
| ENST00000683039.1:c.2493-1G>A | ENSP00000508303.1:n.2493-1G>A | |
| ENST00000683235.1:c.2493-7348G>A | ENSP00000507646.1:n.2493-7348G>A | |
| ENST00000683535.1:n.623-1G>A | ||
| ENST00000684471.1:n.906-1G>A | ||
| ENST00000684584.1:c.1986-1G>A | ENSP00000508044.1:n.1986-1G>A | |
| ENST00000684626.1:n.822-7348G>A | ||
| ENST00000684769.1:c.558-1G>A | ENSP00000507691.1:n.558-1G>A | |
| ENST00000259008.7:c.2493-1G>A MANE Select | ENSP00000259008.2:n.2493-1G>A | |
| ENST00000259008.6:c.2493-1G>A | ENSP00000259008.2:n.2493-1G>A | |
| ENST00000577598.5:c.2493-1G>A | ENSP00000464654.1:n.2493-1G>A | |
| NM_032043.2:c.2493-1G>A , LRG_300t1:c.2493-1G>A | NP_114432.2:n.2493-1G>A | |
| XM_011525332.1:c.2553-1G>A | XP_011523634.1:n.2553-1G>A | |
| XM_011525333.1:c.2553-1G>A | XP_011523635.1:n.2553-1G>A | |
| XM_011525334.1:c.2553-1G>A | XP_011523636.1:n.2553-1G>A | |
| XM_011525335.1:c.2493-1G>A | XP_011523637.1:n.2493-1G>A | |
| XM_011525336.1:c.2433-1G>A | XP_011523638.1:n.2433-1G>A | |
| XM_011525337.1:c.2352-1G>A | XP_011523639.1:n.2352-1G>A | |
| XM_011525338.1:c.2070-1G>A | XP_011523640.1:n.2070-1G>A | |
| XM_011525340.1:c.2553-7348G>A | XP_011523642.1:n.2553-7348G>A | |
| XM_011525332.3:c.2553-1G>A | XP_011523634.1:n.2553-1G>A | |
| XM_011525333.3:c.2553-1G>A | XP_011523635.1:n.2553-1G>A | |
| XM_011525334.2:c.2553-1G>A | XP_011523636.1:n.2553-1G>A | |
| XM_011525335.3:c.2493-1G>A | XP_011523637.1:n.2493-1G>A | |
| XM_011525336.2:c.2433-1G>A | XP_011523638.1:n.2433-1G>A | |
| XM_011525337.2:c.2352-1G>A | XP_011523639.1:n.2352-1G>A | |
| XM_011525338.2:c.2070-1G>A | XP_011523640.1:n.2070-1G>A | |
| XM_011525340.3:c.2553-7348G>A | XP_011523642.1:n.2553-7348G>A | |
| XM_017025200.1:c.2010-1G>A | XP_016880689.1:n.2010-1G>A | |
| XM_017025201.1:c.2010-1G>A | XP_016880690.1:n.2010-1G>A | |
| XM_017025202.1:c.639-1G>A | XP_016880691.1:n.639-1G>A | |
| XM_017025203.1:c.639-1G>A | XP_016880692.1:n.639-1G>A | |
| NM_032043.3:c.2493-1G>A MANE Select | NP_114432.2:n.2493-1G>A |