Linked Data
ClinVar Variation Id:
140819
ClinVar RCV Id:
RCV000129008
RCV000410906
RCV000412441
RCV000590794
RCV001081667
RCV001800423
RCV003149886
RCV001355322
RCV004532542
RCV003315867
dbSNP Id:
rs45437094
ExAC:
17:59761304 G / A
gnomAD v2:
17-59761304-G-A
gnomAD v3:
17-61683943-G-A
gnomAD v4:
17-61683943-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61683943G>A , CM000679.2:g.61683943G>A | GRCh38 |
| NC_000017.10:g.59761304G>A , CM000679.1:g.59761304G>A | GRCh37 |
| NC_000017.9:g.57116086G>A | NCBI36 |
| NG_007409.2:g.184617C>T , LRG_300:g.184617C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682073.1:n.1843C>T | ||
| ENST00000682453.1:c.3103C>T | ENSP00000506943.1:p.Arg1035Cys | |
| ENST00000682477.1:c.*2529C>T | ENSP00000507075.1:n.*2529C>T | |
| ENST00000682589.1:n.8980C>T | ||
| ENST00000682755.1:c.2881C>T | ENSP00000507660.1:p.Arg961Cys | |
| ENST00000682989.1:c.*194C>T | ENSP00000507786.1:n.*194C>T | |
| ENST00000683039.1:c.3103C>T | ENSP00000508303.1:p.Arg1035Cys | |
| ENST00000683235.1:c.*518C>T | ENSP00000507646.1:n.*518C>T | |
| ENST00000683535.1:n.1233C>T | ||
| ENST00000684584.1:c.2266C>T | ENSP00000508044.1:p.Arg756Cys | |
| ENST00000684626.1:n.1349C>T | ||
| ENST00000684769.1:c.1293C>T | ENSP00000507691.1:n.1293C>T | |
| ENST00000259008.7:c.3103C>T MANE Select | ENSP00000259008.2:p.Arg1035Cys | |
| ENST00000259008.6:c.3103C>T | ENSP00000259008.2:p.Arg1035Cys | |
| NM_032043.2:c.3103C>T , LRG_300t1:c.3103C>T | NP_114432.2:p.Arg1035Cys | |
| XM_011525332.1:c.3163C>T | XP_011523634.1:p.Arg1055Cys | |
| XM_011525333.1:c.3163C>T | XP_011523635.1:p.Arg1055Cys | |
| XM_011525334.1:c.3163C>T | XP_011523636.1:p.Arg1055Cys | |
| XM_011525335.1:c.3103C>T | XP_011523637.1:p.Arg1035Cys | |
| XM_011525336.1:c.3043C>T | XP_011523638.1:p.Arg1015Cys | |
| XM_011525337.1:c.2962C>T | XP_011523639.1:p.Arg988Cys | |
| XM_011525338.1:c.2680C>T | XP_011523640.1:p.Arg894Cys | |
| XM_011525332.3:c.3163C>T | XP_011523634.1:p.Arg1055Cys | |
| XM_011525333.3:c.3163C>T | XP_011523635.1:p.Arg1055Cys | |
| XM_011525334.2:c.3163C>T | XP_011523636.1:p.Arg1055Cys | |
| XM_011525335.3:c.3103C>T | XP_011523637.1:p.Arg1035Cys | |
| XM_011525336.2:c.3043C>T | XP_011523638.1:p.Arg1015Cys | |
| XM_011525337.2:c.2962C>T | XP_011523639.1:p.Arg988Cys | |
| XM_011525338.2:c.2680C>T | XP_011523640.1:p.Arg894Cys | |
| XM_017025200.1:c.2620C>T | XP_016880689.1:p.Arg874Cys | |
| XM_017025201.1:c.2620C>T | XP_016880690.1:p.Arg874Cys | |
| XM_017025202.1:c.1249C>T | XP_016880691.1:p.Arg417Cys | |
| XM_017025203.1:c.1249C>T | XP_016880692.1:p.Arg417Cys | |
| NM_032043.3:c.3103C>T MANE Select | NP_114432.2:p.Arg1035Cys |