Linked Data
ClinVar Variation Id:
419460
ClinVar RCV Id:
RCV000477981
RCV000793928
RCV000785425
RCV001014953
RCV001358193
RCV002287408
RCV003128245
RCV003335352
dbSNP Id:
rs1064793887
gnomAD v4:
17-61743135-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61743135C>T , CM000679.2:g.61743135C>T | GRCh38 |
| NC_000017.10:g.59820496C>T , CM000679.1:g.59820496C>T | GRCh37 |
| NC_000017.9:g.57175278C>T | NCBI36 |
| NG_007409.2:g.125425G>A , LRG_300:g.125425G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000584322.2:c.2258-1G>A | ENSP00000463272.2:n.2258-1G>A | |
| ENST00000682066.1:c.2388-1G>A | ENSP00000507191.1:n.2388-1G>A | |
| ENST00000682073.1:n.998-1G>A | ||
| ENST00000682433.1:n.1337-1G>A | ||
| ENST00000682453.1:c.2258-1G>A | ENSP00000506943.1:n.2258-1G>A | |
| ENST00000682477.1:c.*1684-1G>A | ENSP00000507075.1:n.*1684-1G>A | |
| ENST00000682589.1:n.8135-1G>A | ||
| ENST00000682755.1:c.2036-1G>A | ENSP00000507660.1:n.2036-1G>A | |
| ENST00000682989.1:c.2258-1G>A | ENSP00000507786.1:n.2258-1G>A | |
| ENST00000683039.1:c.2258-1G>A | ENSP00000508303.1:n.2258-1G>A | |
| ENST00000683235.1:c.2258-1G>A | ENSP00000507646.1:n.2258-1G>A | |
| ENST00000683381.1:c.2318-1G>A | ENSP00000508184.1:n.2318-1G>A | |
| ENST00000683535.1:n.388-1G>A | ||
| ENST00000684471.1:n.671-1G>A | ||
| ENST00000684584.1:c.1751-1G>A | ENSP00000508044.1:n.1751-1G>A | |
| ENST00000684769.1:c.323-1G>A | ENSP00000507691.1:n.323-1G>A | |
| ENST00000259008.7:c.2258-1G>A MANE Select | ENSP00000259008.2:n.2258-1G>A | |
| ENST00000259008.6:c.2258-1G>A | ENSP00000259008.2:n.2258-1G>A | |
| ENST00000577598.5:c.2258-1G>A | ENSP00000464654.1:n.2258-1G>A | |
| ENST00000584322.1:c.241-1G>A | ||
| NM_032043.2:c.2258-1G>A , LRG_300t1:c.2258-1G>A | NP_114432.2:n.2258-1G>A | |
| XM_011525332.1:c.2318-1G>A | XP_011523634.1:n.2318-1G>A | |
| XM_011525333.1:c.2318-1G>A | XP_011523635.1:n.2318-1G>A | |
| XM_011525334.1:c.2318-1G>A | XP_011523636.1:n.2318-1G>A | |
| XM_011525335.1:c.2258-1G>A | XP_011523637.1:n.2258-1G>A | |
| XM_011525336.1:c.2198-1G>A | XP_011523638.1:n.2198-1G>A | |
| XM_011525337.1:c.2117-1G>A | XP_011523639.1:n.2117-1G>A | |
| XM_011525338.1:c.1835-1G>A | XP_011523640.1:n.1835-1G>A | |
| XM_011525339.1:c.2318-1G>A | XP_011523641.1:n.2318-1G>A | |
| XM_011525340.1:c.2318-1G>A | XP_011523642.1:n.2318-1G>A | |
| XR_934894.1:n.524-1046C>T | ||
| XM_011525332.3:c.2318-1G>A | XP_011523634.1:n.2318-1G>A | |
| XM_011525333.3:c.2318-1G>A | XP_011523635.1:n.2318-1G>A | |
| XM_011525334.2:c.2318-1G>A | XP_011523636.1:n.2318-1G>A | |
| XM_011525335.3:c.2258-1G>A | XP_011523637.1:n.2258-1G>A | |
| XM_011525336.2:c.2198-1G>A | XP_011523638.1:n.2198-1G>A | |
| XM_011525337.2:c.2117-1G>A | XP_011523639.1:n.2117-1G>A | |
| XM_011525338.2:c.1835-1G>A | XP_011523640.1:n.1835-1G>A | |
| XM_011525339.3:c.2318-1G>A | XP_011523641.1:n.2318-1G>A | |
| XM_011525340.3:c.2318-1G>A | XP_011523642.1:n.2318-1G>A | |
| XM_017025200.1:c.1775-1G>A | XP_016880689.1:n.1775-1G>A | |
| XM_017025201.1:c.1775-1G>A | XP_016880690.1:n.1775-1G>A | |
| XM_017025202.1:c.404-1G>A | XP_016880691.1:n.404-1G>A | |
| XM_017025203.1:c.404-1G>A | XP_016880692.1:n.404-1G>A | |
| NM_032043.3:c.2258-1G>A MANE Select | NP_114432.2:n.2258-1G>A |