Linked Data
ClinVar Variation Id:
133755
ClinVar RCV Id:
RCV000120399
RCV000131535
RCV000588835
RCV000662392
RCV000709540
RCV001030535
RCV001083712
RCV001356698
RCV003315736
RCV003492524
dbSNP Id:
rs201869624
ExAC:
17:59793364 G / A
gnomAD v2:
17-59793364-G-A
gnomAD v3:
17-61716003-G-A
gnomAD v4:
17-61716003-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61716003G>A , CM000679.2:g.61716003G>A | GRCh38 |
| NC_000017.10:g.59793364G>A , CM000679.1:g.59793364G>A | GRCh37 |
| NC_000017.9:g.57148146G>A | NCBI36 |
| NG_007409.2:g.152557C>T , LRG_300:g.152557C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682066.1:c.2570C>T | ENSP00000507191.1:n.2570C>T | |
| ENST00000682073.1:n.1180C>T | ||
| ENST00000682433.1:n.1519C>T | ||
| ENST00000682453.1:c.2440C>T | ENSP00000506943.1:p.Arg814Cys | |
| ENST00000682477.1:c.*1866C>T | ENSP00000507075.1:n.*1866C>T | |
| ENST00000682589.1:n.8317C>T | ||
| ENST00000682755.1:c.2218C>T | ENSP00000507660.1:p.Arg740Cys | |
| ENST00000682989.1:c.2440C>T | ENSP00000507786.1:p.Arg814Cys | |
| ENST00000683039.1:c.2440C>T | ENSP00000508303.1:p.Arg814Cys | |
| ENST00000683235.1:c.2440C>T | ENSP00000507646.1:p.Arg814Cys | |
| ENST00000683535.1:n.570C>T | ||
| ENST00000684471.1:n.853C>T | ||
| ENST00000684584.1:c.1933C>T | ENSP00000508044.1:p.Arg645Cys | |
| ENST00000684626.1:n.769C>T | ||
| ENST00000684769.1:c.505C>T | ENSP00000507691.1:p.Arg169Cys | |
| ENST00000259008.7:c.2440C>T MANE Select | ENSP00000259008.2:p.Arg814Cys | |
| ENST00000259008.6:c.2440C>T | ENSP00000259008.2:p.Arg814Cys | |
| ENST00000577598.5:c.2440C>T | ENSP00000464654.1:p.Arg814Cys | |
| NM_032043.2:c.2440C>T , LRG_300t1:c.2440C>T | NP_114432.2:p.Arg814Cys | |
| XM_011525332.1:c.2500C>T | XP_011523634.1:p.Arg834Cys | |
| XM_011525333.1:c.2500C>T | XP_011523635.1:p.Arg834Cys | |
| XM_011525334.1:c.2500C>T | XP_011523636.1:p.Arg834Cys | |
| XM_011525335.1:c.2440C>T | XP_011523637.1:p.Arg814Cys | |
| XM_011525336.1:c.2380C>T | XP_011523638.1:p.Arg794Cys | |
| XM_011525337.1:c.2299C>T | XP_011523639.1:p.Arg767Cys | |
| XM_011525338.1:c.2017C>T | XP_011523640.1:p.Arg673Cys | |
| XM_011525339.1:c.*81C>T | XP_011523641.1:n.*81C>T | |
| XM_011525340.1:c.2500C>T | XP_011523642.1:p.Arg834Cys | |
| XM_011525332.3:c.2500C>T | XP_011523634.1:p.Arg834Cys | |
| XM_011525333.3:c.2500C>T | XP_011523635.1:p.Arg834Cys | |
| XM_011525334.2:c.2500C>T | XP_011523636.1:p.Arg834Cys | |
| XM_011525335.3:c.2440C>T | XP_011523637.1:p.Arg814Cys | |
| XM_011525336.2:c.2380C>T | XP_011523638.1:p.Arg794Cys | |
| XM_011525337.2:c.2299C>T | XP_011523639.1:p.Arg767Cys | |
| XM_011525338.2:c.2017C>T | XP_011523640.1:p.Arg673Cys | |
| XM_011525339.3:c.*81C>T | XP_011523641.1:n.*81C>T | |
| XM_011525340.3:c.2500C>T | XP_011523642.1:p.Arg834Cys | |
| XM_017025200.1:c.1957C>T | XP_016880689.1:p.Arg653Cys | |
| XM_017025201.1:c.1957C>T | XP_016880690.1:p.Arg653Cys | |
| XM_017025202.1:c.586C>T | XP_016880691.1:p.Arg196Cys | |
| XM_017025203.1:c.586C>T | XP_016880692.1:p.Arg196Cys | |
| NM_032043.3:c.2440C>T MANE Select | NP_114432.2:p.Arg814Cys |