Linked Data
ClinVar Variation Id:
479430
dbSNP Id:
rs1555590286
gnomAD v3:
17-61743012-C-T
gnomAD v4:
17-61743012-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61743012C>T , CM000679.2:g.61743012C>T | GRCh38 |
| NC_000017.10:g.59820373C>T , CM000679.1:g.59820373C>T | GRCh37 |
| NC_000017.9:g.57175155C>T | NCBI36 |
| NG_007409.2:g.125548G>A , LRG_300:g.125548G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000584322.2:c.2379+1G>A | ENSP00000463272.2:n.2379+1G>A | |
| ENST00000682066.1:c.2509+1G>A | ENSP00000507191.1:n.2509+1G>A | |
| ENST00000682073.1:n.1119+1G>A | ||
| ENST00000682433.1:n.1458+1G>A | ||
| ENST00000682453.1:c.2379+1G>A | ENSP00000506943.1:n.2379+1G>A | |
| ENST00000682477.1:c.*1805+1G>A | ENSP00000507075.1:n.*1805+1G>A | |
| ENST00000682589.1:n.8256+1G>A | ||
| ENST00000682755.1:c.2157+1G>A | ENSP00000507660.1:n.2157+1G>A | |
| ENST00000682989.1:c.2379+1G>A | ENSP00000507786.1:n.2379+1G>A | |
| ENST00000683039.1:c.2379+1G>A | ENSP00000508303.1:n.2379+1G>A | |
| ENST00000683235.1:c.2379+1G>A | ENSP00000507646.1:n.2379+1G>A | |
| ENST00000683381.1:c.2439+1G>A | ENSP00000508184.1:n.2439+1G>A | |
| ENST00000683535.1:n.509+1G>A | ||
| ENST00000684471.1:n.792+1G>A | ||
| ENST00000684584.1:c.1872+1G>A | ENSP00000508044.1:n.1872+1G>A | |
| ENST00000684769.1:c.444+1G>A | ENSP00000507691.1:n.444+1G>A | |
| ENST00000259008.7:c.2379+1G>A MANE Select | ENSP00000259008.2:n.2379+1G>A | |
| ENST00000259008.6:c.2379+1G>A | ENSP00000259008.2:n.2379+1G>A | |
| ENST00000577598.5:c.2379+1G>A | ENSP00000464654.1:n.2379+1G>A | |
| ENST00000584322.1:c.362+1G>A | ||
| NM_032043.2:c.2379+1G>A , LRG_300t1:c.2379+1G>A | NP_114432.2:n.2379+1G>A | |
| XM_011525332.1:c.2439+1G>A | XP_011523634.1:n.2439+1G>A | |
| XM_011525333.1:c.2439+1G>A | XP_011523635.1:n.2439+1G>A | |
| XM_011525334.1:c.2439+1G>A | XP_011523636.1:n.2439+1G>A | |
| XM_011525335.1:c.2379+1G>A | XP_011523637.1:n.2379+1G>A | |
| XM_011525336.1:c.2319+1G>A | XP_011523638.1:n.2319+1G>A | |
| XM_011525337.1:c.2238+1G>A | XP_011523639.1:n.2238+1G>A | |
| XM_011525338.1:c.1956+1G>A | XP_011523640.1:n.1956+1G>A | |
| XM_011525339.1:c.2439+1G>A | XP_011523641.1:n.2439+1G>A | |
| XM_011525340.1:c.2439+1G>A | XP_011523642.1:n.2439+1G>A | |
| XR_934894.1:n.524-1169C>T | ||
| XM_011525332.3:c.2439+1G>A | XP_011523634.1:n.2439+1G>A | |
| XM_011525333.3:c.2439+1G>A | XP_011523635.1:n.2439+1G>A | |
| XM_011525334.2:c.2439+1G>A | XP_011523636.1:n.2439+1G>A | |
| XM_011525335.3:c.2379+1G>A | XP_011523637.1:n.2379+1G>A | |
| XM_011525336.2:c.2319+1G>A | XP_011523638.1:n.2319+1G>A | |
| XM_011525337.2:c.2238+1G>A | XP_011523639.1:n.2238+1G>A | |
| XM_011525338.2:c.1956+1G>A | XP_011523640.1:n.1956+1G>A | |
| XM_011525339.3:c.2439+1G>A | XP_011523641.1:n.2439+1G>A | |
| XM_011525340.3:c.2439+1G>A | XP_011523642.1:n.2439+1G>A | |
| XM_017025200.1:c.1896+1G>A | XP_016880689.1:n.1896+1G>A | |
| XM_017025201.1:c.1896+1G>A | XP_016880690.1:n.1896+1G>A | |
| XM_017025202.1:c.525+1G>A | XP_016880691.1:n.525+1G>A | |
| XM_017025203.1:c.525+1G>A | XP_016880692.1:n.525+1G>A | |
| NM_032043.3:c.2379+1G>A MANE Select | NP_114432.2:n.2379+1G>A |