Linked Data
ClinVar Variation Id:
185848
ClinVar RCV Id:
RCV000165345
RCV000219928
RCV000206065
RCV000662796
RCV001781512
RCV002225482
RCV003316042
dbSNP Id:
rs752309409
ExAC:
17:59885995 G / A
gnomAD v2:
17-59885995-G-A
gnomAD v3:
17-61808634-G-A
gnomAD v4:
17-61808634-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61808634G>A , CM000679.2:g.61808634G>A | GRCh38 |
| NC_000017.10:g.59885995G>A , CM000679.1:g.59885995G>A | GRCh37 |
| NC_000017.9:g.57240777G>A | NCBI36 |
| NG_007409.2:g.59926C>T , LRG_300:g.59926C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000579028.2:c.244C>T | ENSP00000463827.2:p.Arg82Cys | |
| ENST00000584322.2:c.751C>T | ENSP00000463272.2:p.Arg251Cys | |
| ENST00000682066.1:c.244C>T | ENSP00000507191.1:p.Arg82Cys | |
| ENST00000682453.1:c.751C>T | ENSP00000506943.1:p.Arg251Cys | |
| ENST00000682477.1:c.751C>T | ENSP00000507075.1:p.Arg251Cys | |
| ENST00000682589.1:n.2492C>T | ||
| ENST00000682611.1:c.244C>T | ENSP00000508326.1:p.Arg82Cys | |
| ENST00000682755.1:c.751C>T | ENSP00000507660.1:p.Arg251Cys | |
| ENST00000682989.1:c.751C>T | ENSP00000507786.1:p.Arg251Cys | |
| ENST00000683039.1:c.751C>T | ENSP00000508303.1:p.Arg251Cys | |
| ENST00000683235.1:c.751C>T | ENSP00000507646.1:p.Arg251Cys | |
| ENST00000683381.1:c.751C>T | ENSP00000508184.1:p.Arg251Cys | |
| ENST00000683692.1:c.244C>T | ENSP00000507964.1:p.Arg82Cys | |
| ENST00000684584.1:c.244C>T | ENSP00000508044.1:p.Arg82Cys | |
| ENST00000259008.7:c.751C>T MANE Select | ENSP00000259008.2:p.Arg251Cys | |
| ENST00000259008.6:c.751C>T | ENSP00000259008.2:p.Arg251Cys | |
| ENST00000577598.5:c.751C>T | ENSP00000464654.1:p.Arg251Cys | |
| NM_032043.2:c.751C>T , LRG_300t1:c.751C>T | NP_114432.2:p.Arg251Cys | |
| XM_011525332.1:c.751C>T | XP_011523634.1:p.Arg251Cys | |
| XM_011525333.1:c.751C>T | XP_011523635.1:p.Arg251Cys | |
| XM_011525334.1:c.751C>T | XP_011523636.1:p.Arg251Cys | |
| XM_011525335.1:c.751C>T | XP_011523637.1:p.Arg251Cys | |
| XM_011525336.1:c.751C>T | XP_011523638.1:p.Arg251Cys | |
| XM_011525337.1:c.751C>T | XP_011523639.1:p.Arg251Cys | |
| XM_011525338.1:c.268C>T | XP_011523640.1:p.Arg90Cys | |
| XM_011525339.1:c.751C>T | XP_011523641.1:p.Arg251Cys | |
| XM_011525340.1:c.751C>T | XP_011523642.1:p.Arg251Cys | |
| XM_011525341.1:c.751C>T | XP_011523643.1:p.Arg251Cys | |
| XM_011525332.3:c.751C>T | XP_011523634.1:p.Arg251Cys | |
| XM_011525333.3:c.751C>T | XP_011523635.1:p.Arg251Cys | |
| XM_011525334.2:c.751C>T | XP_011523636.1:p.Arg251Cys | |
| XM_011525335.3:c.751C>T | XP_011523637.1:p.Arg251Cys | |
| XM_011525336.2:c.751C>T | XP_011523638.1:p.Arg251Cys | |
| XM_011525337.2:c.751C>T | XP_011523639.1:p.Arg251Cys | |
| XM_011525338.2:c.268C>T | XP_011523640.1:p.Arg90Cys | |
| XM_011525339.3:c.751C>T | XP_011523641.1:p.Arg251Cys | |
| XM_011525340.3:c.751C>T | XP_011523642.1:p.Arg251Cys | |
| XM_011525341.3:c.751C>T | XP_011523643.1:p.Arg251Cys | |
| XM_017025200.1:c.268C>T | XP_016880689.1:p.Arg90Cys | |
| XM_017025201.1:c.208C>T | XP_016880690.1:p.Arg70Cys | |
| NM_032043.3:c.751C>T MANE Select | NP_114432.2:p.Arg251Cys |