Linked Data
ClinVar Variation Id:
530356
dbSNP Id:
rs748497834
ExAC:
17:59878845 A / C
gnomAD v2:
17-59878845-A-C
gnomAD v3:
17-61801484-A-C
gnomAD v4:
17-61801484-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61801484A>C , CM000679.2:g.61801484A>C | GRCh38 |
| NC_000017.10:g.59878845A>C , CM000679.1:g.59878845A>C | GRCh37 |
| NC_000017.9:g.57233627A>C | NCBI36 |
| NG_007409.2:g.67076T>G , LRG_300:g.67076T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000579028.2:c.412-10T>G | ENSP00000463827.2:n.412-10T>G | |
| ENST00000584322.2:c.919-10T>G | ENSP00000463272.2:n.919-10T>G | |
| ENST00000682066.1:c.412-10T>G | ENSP00000507191.1:n.412-10T>G | |
| ENST00000682453.1:c.919-10T>G | ENSP00000506943.1:n.919-10T>G | |
| ENST00000682477.1:c.919-10T>G | ENSP00000507075.1:n.919-10T>G | |
| ENST00000682589.1:n.2660-10T>G | ||
| ENST00000682611.1:c.412-10T>G | ENSP00000508326.1:n.412-10T>G | |
| ENST00000682755.1:c.919-2185T>G | ENSP00000507660.1:n.919-2185T>G | |
| ENST00000682989.1:c.919-10T>G | ENSP00000507786.1:n.919-10T>G | |
| ENST00000683039.1:c.919-10T>G | ENSP00000508303.1:n.919-10T>G | |
| ENST00000683235.1:c.919-10T>G | ENSP00000507646.1:n.919-10T>G | |
| ENST00000683381.1:c.919-10T>G | ENSP00000508184.1:n.919-10T>G | |
| ENST00000683692.1:c.497-10T>G | ENSP00000507964.1:n.497-10T>G | |
| ENST00000684584.1:c.412-10T>G | ENSP00000508044.1:n.412-10T>G | |
| ENST00000259008.7:c.919-10T>G MANE Select | ENSP00000259008.2:n.919-10T>G | |
| ENST00000259008.6:c.919-10T>G | ENSP00000259008.2:n.919-10T>G | |
| ENST00000577598.5:c.919-10T>G | ENSP00000464654.1:n.919-10T>G | |
| NM_032043.2:c.919-10T>G , LRG_300t1:c.919-10T>G | NP_114432.2:n.919-10T>G | |
| XM_011525332.1:c.919-10T>G | XP_011523634.1:n.919-10T>G | |
| XM_011525333.1:c.919-10T>G | XP_011523635.1:n.919-10T>G | |
| XM_011525334.1:c.919-10T>G | XP_011523636.1:n.919-10T>G | |
| XM_011525335.1:c.919-10T>G | XP_011523637.1:n.919-10T>G | |
| XM_011525336.1:c.919-10T>G | XP_011523638.1:n.919-10T>G | |
| XM_011525337.1:c.919-10T>G | XP_011523639.1:n.919-10T>G | |
| XM_011525338.1:c.436-10T>G | XP_011523640.1:n.436-10T>G | |
| XM_011525339.1:c.919-10T>G | XP_011523641.1:n.919-10T>G | |
| XM_011525340.1:c.919-10T>G | XP_011523642.1:n.919-10T>G | |
| XM_011525341.1:c.919-10T>G | XP_011523643.1:n.919-10T>G | |
| XM_011525332.3:c.919-10T>G | XP_011523634.1:n.919-10T>G | |
| XM_011525333.3:c.919-10T>G | XP_011523635.1:n.919-10T>G | |
| XM_011525334.2:c.919-10T>G | XP_011523636.1:n.919-10T>G | |
| XM_011525335.3:c.919-10T>G | XP_011523637.1:n.919-10T>G | |
| XM_011525336.2:c.919-10T>G | XP_011523638.1:n.919-10T>G | |
| XM_011525337.2:c.919-10T>G | XP_011523639.1:n.919-10T>G | |
| XM_011525338.2:c.436-10T>G | XP_011523640.1:n.436-10T>G | |
| XM_011525339.3:c.919-10T>G | XP_011523641.1:n.919-10T>G | |
| XM_011525340.3:c.919-10T>G | XP_011523642.1:n.919-10T>G | |
| XM_011525341.3:c.919-10T>G | XP_011523643.1:n.919-10T>G | |
| XM_017025200.1:c.436-10T>G | XP_016880689.1:n.436-10T>G | |
| XM_017025201.1:c.376-10T>G | XP_016880690.1:n.376-10T>G | |
| NM_032043.3:c.919-10T>G MANE Select | NP_114432.2:n.919-10T>G |