Linked Data
ClinVar Variation Id:
13938
ClinVar RCV Id:
RCV000014965
RCV000034774
RCV000082055
RCV000202663
RCV000162949
RCV000320112
RCV000238890
RCV000354936
RCV000411820
RCV000410308
RCV000736279
RCV001080524
RCV001269493
RCV001822995
dbSNP Id:
rs17158558
ExAC:
10:43620335 C / T
gnomAD v2:
10-43620335-C-T
gnomAD v3:
10-43124887-C-T
gnomAD v4:
10-43124887-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43124887C>T , CM000672.2:g.43124887C>T | GRCh38 |
| NC_000010.10:g.43620335C>T , CM000672.1:g.43620335C>T | GRCh37 |
| NC_000010.9:g.42940341C>T | NCBI36 |
| NG_007489.1:g.52819C>T , LRG_518:g.52819C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.2548C>T | ENSP00000480088.2:p.Arg850Cys | |
| ENST00000683007.1:n.2518C>T | ||
| ENST00000340058.6:c.2944C>T | ENSP00000344798.4:p.Arg982Cys | |
| ENST00000355710.8:c.2944C>T MANE Select | ENSP00000347942.3:p.Arg982Cys | |
| ENST00000671844.1:c.*1538C>T | ENSP00000500541.1:n.*1538C>T | |
| ENST00000672389.1:c.*1538C>T | ENSP00000500252.1:n.*1538C>T | |
| ENST00000340058.5:c.2944C>T | ENSP00000344798.4:p.Arg982Cys | |
| ENST00000355710.7:c.2944C>T | ENSP00000347942.3:p.Arg982Cys | |
| ENST00000615310.4:c.*293C>T | ENSP00000480088.1:n.*293C>T | |
| NM_020630.4:c.2944C>T , LRG_518t2:c.2944C>T | NP_065681.1:p.Arg982Cys | |
| NM_020975.4:c.2944C>T , LRG_518t1:c.2944C>T | NP_066124.1:p.Arg982Cys | |
| XM_011540027.1:c.2944C>T | XP_011538329.1:p.Arg982Cys | |
| NM_001355216.1:c.2182C>T | NP_001342145.1:p.Arg728Cys | |
| NM_020630.5:c.2944C>T | NP_065681.1:p.Arg982Cys | |
| NM_020975.5:c.2944C>T | NP_066124.1:p.Arg982Cys | |
| NM_020975.6:c.2944C>T MANE Select | NP_066124.1:p.Arg982Cys | |
| NM_020630.6:c.2944C>T | NP_065681.1:p.Arg982Cys |