Linked Data
ClinVar Variation Id:
414678
dbSNP Id:
rs772953115
ExAC:
17:59793304 C / G
gnomAD v2:
17-59793304-C-G
gnomAD v3:
17-61715943-C-G
gnomAD v4:
17-61715943-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61715943C>G , CM000679.2:g.61715943C>G | GRCh38 |
| NC_000017.10:g.59793304C>G , CM000679.1:g.59793304C>G | GRCh37 |
| NC_000017.9:g.57148086C>G | NCBI36 |
| NG_007409.2:g.152617G>C , LRG_300:g.152617G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682066.1:c.2622+8G>C | ENSP00000507191.1:n.2622+8G>C | |
| ENST00000682073.1:n.1232+8G>C | ||
| ENST00000682433.1:n.1571+8G>C | ||
| ENST00000682453.1:c.2492+8G>C | ENSP00000506943.1:n.2492+8G>C | |
| ENST00000682477.1:c.*1918+8G>C | ENSP00000507075.1:n.*1918+8G>C | |
| ENST00000682589.1:n.8369+8G>C | ||
| ENST00000682755.1:c.2270+8G>C | ENSP00000507660.1:n.2270+8G>C | |
| ENST00000682989.1:c.2492+8G>C | ENSP00000507786.1:n.2492+8G>C | |
| ENST00000683039.1:c.2492+8G>C | ENSP00000508303.1:n.2492+8G>C | |
| ENST00000683235.1:c.2492+8G>C | ENSP00000507646.1:n.2492+8G>C | |
| ENST00000683535.1:n.622+8G>C | ||
| ENST00000684471.1:n.905+8G>C | ||
| ENST00000684584.1:c.1985+8G>C | ENSP00000508044.1:n.1985+8G>C | |
| ENST00000684626.1:n.821+8G>C | ||
| ENST00000684769.1:c.557+8G>C | ENSP00000507691.1:n.557+8G>C | |
| ENST00000259008.7:c.2492+8G>C MANE Select | ENSP00000259008.2:n.2492+8G>C | |
| ENST00000259008.6:c.2492+8G>C | ENSP00000259008.2:n.2492+8G>C | |
| ENST00000577598.5:c.2492+8G>C | ENSP00000464654.1:n.2492+8G>C | |
| NM_032043.2:c.2492+8G>C , LRG_300t1:c.2492+8G>C | NP_114432.2:n.2492+8G>C | |
| XM_011525332.1:c.2552+8G>C | XP_011523634.1:n.2552+8G>C | |
| XM_011525333.1:c.2552+8G>C | XP_011523635.1:n.2552+8G>C | |
| XM_011525334.1:c.2552+8G>C | XP_011523636.1:n.2552+8G>C | |
| XM_011525335.1:c.2492+8G>C | XP_011523637.1:n.2492+8G>C | |
| XM_011525336.1:c.2432+8G>C | XP_011523638.1:n.2432+8G>C | |
| XM_011525337.1:c.2351+8G>C | XP_011523639.1:n.2351+8G>C | |
| XM_011525338.1:c.2069+8G>C | XP_011523640.1:n.2069+8G>C | |
| XM_011525340.1:c.2552+8G>C | XP_011523642.1:n.2552+8G>C | |
| XM_011525332.3:c.2552+8G>C | XP_011523634.1:n.2552+8G>C | |
| XM_011525333.3:c.2552+8G>C | XP_011523635.1:n.2552+8G>C | |
| XM_011525334.2:c.2552+8G>C | XP_011523636.1:n.2552+8G>C | |
| XM_011525335.3:c.2492+8G>C | XP_011523637.1:n.2492+8G>C | |
| XM_011525336.2:c.2432+8G>C | XP_011523638.1:n.2432+8G>C | |
| XM_011525337.2:c.2351+8G>C | XP_011523639.1:n.2351+8G>C | |
| XM_011525338.2:c.2069+8G>C | XP_011523640.1:n.2069+8G>C | |
| XM_011525340.3:c.2552+8G>C | XP_011523642.1:n.2552+8G>C | |
| XM_017025200.1:c.2009+8G>C | XP_016880689.1:n.2009+8G>C | |
| XM_017025201.1:c.2009+8G>C | XP_016880690.1:n.2009+8G>C | |
| XM_017025202.1:c.638+8G>C | XP_016880691.1:n.638+8G>C | |
| XM_017025203.1:c.638+8G>C | XP_016880692.1:n.638+8G>C | |
| NM_032043.3:c.2492+8G>C MANE Select | NP_114432.2:n.2492+8G>C |