Linked Data
ClinVar Variation Id:
136111
dbSNP Id:
rs142318626
ExAC:
10:43615035 C / T
gnomAD v2:
10-43615035-C-T
gnomAD v4:
10-43119587-C-T
PubMed:
PMID:24336963
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43119587C>T , CM000672.2:g.43119587C>T | GRCh38 |
| NC_000010.10:g.43615035C>T , CM000672.1:g.43615035C>T | GRCh37 |
| NC_000010.9:g.42935041C>T | NCBI36 |
| NG_007489.1:g.47519C>T , LRG_518:g.47519C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000615310.5:c.2053C>T | ENSP00000480088.2:p.Arg685Cys | |
| ENST00000683007.1:n.2023C>T | ||
| ENST00000683872.1:n.2014C>T | ||
| ENST00000340058.6:c.2449C>T | ENSP00000344798.4:p.Arg817Cys | |
| ENST00000355710.8:c.2449C>T MANE Select | ENSP00000347942.3:p.Arg817Cys | |
| ENST00000671844.1:c.*1043C>T | ENSP00000500541.1:n.*1043C>T | |
| ENST00000672389.1:c.*1043C>T | ENSP00000500252.1:n.*1043C>T | |
| ENST00000340058.5:c.2449C>T | ENSP00000344798.4:p.Arg817Cys | |
| ENST00000355710.7:c.2449C>T | ENSP00000347942.3:p.Arg817Cys | |
| ENST00000615310.4:c.1290-115C>T | ENSP00000480088.1:n.1290-115C>T | |
| NM_020630.4:c.2449C>T , LRG_518t2:c.2449C>T | NP_065681.1:p.Arg817Cys | |
| NM_020975.4:c.2449C>T , LRG_518t1:c.2449C>T | NP_066124.1:p.Arg817Cys | |
| XM_011540027.1:c.2449C>T | XP_011538329.1:p.Arg817Cys | |
| NM_001355216.1:c.1687C>T | NP_001342145.1:p.Arg563Cys | |
| NM_020630.5:c.2449C>T | NP_065681.1:p.Arg817Cys | |
| NM_020975.5:c.2449C>T | NP_066124.1:p.Arg817Cys | |
| NM_020975.6:c.2449C>T MANE Select | NP_066124.1:p.Arg817Cys | |
| NM_020630.6:c.2449C>T | NP_065681.1:p.Arg817Cys |