Linked Data
ClinVar Variation Id:
372097
dbSNP Id:
rs369153270
ExAC:
17:59878603 C / T
gnomAD v2:
17-59878603-C-T
gnomAD v3:
17-61801242-C-T
gnomAD v4:
17-61801242-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61801242C>T , CM000679.2:g.61801242C>T | GRCh38 |
| NC_000017.10:g.59878603C>T , CM000679.1:g.59878603C>T | GRCh37 |
| NC_000017.9:g.57233385C>T | NCBI36 |
| NG_007409.2:g.67318G>A , LRG_300:g.67318G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000579028.2:c.633+11G>A | ENSP00000463827.2:n.633+11G>A | |
| ENST00000584322.2:c.1140+11G>A | ENSP00000463272.2:n.1140+11G>A | |
| ENST00000682066.1:c.633+11G>A | ENSP00000507191.1:n.633+11G>A | |
| ENST00000682453.1:c.1140+11G>A | ENSP00000506943.1:n.1140+11G>A | |
| ENST00000682477.1:c.1140+11G>A | ENSP00000507075.1:n.1140+11G>A | |
| ENST00000682589.1:n.2881+11G>A | ||
| ENST00000682611.1:c.633+11G>A | ENSP00000508326.1:n.633+11G>A | |
| ENST00000682755.1:c.919-1943G>A | ENSP00000507660.1:n.919-1943G>A | |
| ENST00000682989.1:c.1140+11G>A | ENSP00000507786.1:n.1140+11G>A | |
| ENST00000683039.1:c.1140+11G>A | ENSP00000508303.1:n.1140+11G>A | |
| ENST00000683235.1:c.1140+11G>A | ENSP00000507646.1:n.1140+11G>A | |
| ENST00000683381.1:c.1140+11G>A | ENSP00000508184.1:n.1140+11G>A | |
| ENST00000683692.1:c.718+11G>A | ENSP00000507964.1:n.718+11G>A | |
| ENST00000684584.1:c.633+11G>A | ENSP00000508044.1:n.633+11G>A | |
| ENST00000259008.7:c.1140+11G>A MANE Select | ENSP00000259008.2:n.1140+11G>A | |
| ENST00000259008.6:c.1140+11G>A | ENSP00000259008.2:n.1140+11G>A | |
| ENST00000577598.5:c.1140+11G>A | ENSP00000464654.1:n.1140+11G>A | |
| NM_032043.2:c.1140+11G>A , LRG_300t1:c.1140+11G>A | NP_114432.2:n.1140+11G>A | |
| XM_011525332.1:c.1140+11G>A | XP_011523634.1:n.1140+11G>A | |
| XM_011525333.1:c.1140+11G>A | XP_011523635.1:n.1140+11G>A | |
| XM_011525334.1:c.1140+11G>A | XP_011523636.1:n.1140+11G>A | |
| XM_011525335.1:c.1140+11G>A | XP_011523637.1:n.1140+11G>A | |
| XM_011525336.1:c.1140+11G>A | XP_011523638.1:n.1140+11G>A | |
| XM_011525337.1:c.1140+11G>A | XP_011523639.1:n.1140+11G>A | |
| XM_011525338.1:c.657+11G>A | XP_011523640.1:n.657+11G>A | |
| XM_011525339.1:c.1140+11G>A | XP_011523641.1:n.1140+11G>A | |
| XM_011525340.1:c.1140+11G>A | XP_011523642.1:n.1140+11G>A | |
| XM_011525341.1:c.1140+11G>A | XP_011523643.1:n.1140+11G>A | |
| XM_011525332.3:c.1140+11G>A | XP_011523634.1:n.1140+11G>A | |
| XM_011525333.3:c.1140+11G>A | XP_011523635.1:n.1140+11G>A | |
| XM_011525334.2:c.1140+11G>A | XP_011523636.1:n.1140+11G>A | |
| XM_011525335.3:c.1140+11G>A | XP_011523637.1:n.1140+11G>A | |
| XM_011525336.2:c.1140+11G>A | XP_011523638.1:n.1140+11G>A | |
| XM_011525337.2:c.1140+11G>A | XP_011523639.1:n.1140+11G>A | |
| XM_011525338.2:c.657+11G>A | XP_011523640.1:n.657+11G>A | |
| XM_011525339.3:c.1140+11G>A | XP_011523641.1:n.1140+11G>A | |
| XM_011525340.3:c.1140+11G>A | XP_011523642.1:n.1140+11G>A | |
| XM_011525341.3:c.1140+11G>A | XP_011523643.1:n.1140+11G>A | |
| XM_017025200.1:c.657+11G>A | XP_016880689.1:n.657+11G>A | |
| XM_017025201.1:c.597+11G>A | XP_016880690.1:n.597+11G>A | |
| NM_032043.3:c.1140+11G>A MANE Select | NP_114432.2:n.1140+11G>A |