Linked Data
ClinVar Variation Id:
577717
ClinVar RCV Id:
RCV000700540
dbSNP Id:
rs1275343223
gnomAD v2:
17-59761085-C-T
gnomAD v3:
17-61683724-C-T
gnomAD v4:
17-61683724-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61683724C>T , CM000679.2:g.61683724C>T | GRCh38 |
| NC_000017.10:g.59761085C>T , CM000679.1:g.59761085C>T | GRCh37 |
| NC_000017.9:g.57115867C>T | NCBI36 |
| NG_007409.2:g.184836G>A , LRG_300:g.184836G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682073.1:n.2062G>A | ||
| ENST00000682453.1:c.3322G>A | ENSP00000506943.1:p.Val1108Ile | |
| ENST00000682477.1:c.*2748G>A | ENSP00000507075.1:n.*2748G>A | |
| ENST00000682589.1:n.9199G>A | ||
| ENST00000682755.1:c.3100G>A | ENSP00000507660.1:p.Val1034Ile | |
| ENST00000682989.1:c.*413G>A | ENSP00000507786.1:n.*413G>A | |
| ENST00000683039.1:c.3322G>A | ENSP00000508303.1:p.Val1108Ile | |
| ENST00000683235.1:c.*737G>A | ENSP00000507646.1:n.*737G>A | |
| ENST00000683535.1:n.1452G>A | ||
| ENST00000684584.1:c.2485G>A | ENSP00000508044.1:p.Val829Ile | |
| ENST00000684626.1:n.1568G>A | ||
| ENST00000684769.1:c.1512G>A | ENSP00000507691.1:n.1512G>A | |
| ENST00000259008.7:c.3322G>A MANE Select | ENSP00000259008.2:p.Val1108Ile | |
| ENST00000259008.6:c.3322G>A | ENSP00000259008.2:p.Val1108Ile | |
| NM_032043.2:c.3322G>A , LRG_300t1:c.3322G>A | NP_114432.2:p.Val1108Ile | |
| XM_011525332.1:c.3382G>A | XP_011523634.1:p.Val1128Ile | |
| XM_011525333.1:c.3382G>A | XP_011523635.1:p.Val1128Ile | |
| XM_011525334.1:c.3382G>A | XP_011523636.1:p.Val1128Ile | |
| XM_011525335.1:c.3322G>A | XP_011523637.1:p.Val1108Ile | |
| XM_011525336.1:c.3262G>A | XP_011523638.1:p.Val1088Ile | |
| XM_011525337.1:c.3181G>A | XP_011523639.1:p.Val1061Ile | |
| XM_011525338.1:c.2899G>A | XP_011523640.1:p.Val967Ile | |
| XM_011525332.3:c.3382G>A | XP_011523634.1:p.Val1128Ile | |
| XM_011525333.3:c.3382G>A | XP_011523635.1:p.Val1128Ile | |
| XM_011525334.2:c.3382G>A | XP_011523636.1:p.Val1128Ile | |
| XM_011525335.3:c.3322G>A | XP_011523637.1:p.Val1108Ile | |
| XM_011525336.2:c.3262G>A | XP_011523638.1:p.Val1088Ile | |
| XM_011525337.2:c.3181G>A | XP_011523639.1:p.Val1061Ile | |
| XM_011525338.2:c.2899G>A | XP_011523640.1:p.Val967Ile | |
| XM_017025200.1:c.2839G>A | XP_016880689.1:p.Val947Ile | |
| XM_017025201.1:c.2839G>A | XP_016880690.1:p.Val947Ile | |
| XM_017025202.1:c.1468G>A | XP_016880691.1:p.Val490Ile | |
| XM_017025203.1:c.1468G>A | XP_016880692.1:p.Val490Ile | |
| NM_032043.3:c.3322G>A MANE Select | NP_114432.2:p.Val1108Ile |