Linked Data
ClinVar Variation Id:
53058
ClinVar RCV Id:
RCV000046072
RCV000057689
RCV000182078
RCV000587627
RCV001841647
RCV002504938
RCV002345338
dbSNP Id:
rs199472696
ExAC:
11:2591900 C / T
gnomAD v2:
11-2591900-C-T
gnomAD v3:
11-2570670-C-T
gnomAD v4:
11-2570670-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2570670C>T , CM000673.2:g.2570670C>T | GRCh38 |
| NC_000011.9:g.2591900C>T , CM000673.1:g.2591900C>T | GRCh37 |
| NC_000011.8:g.2548476C>T | NCBI36 |
| NG_008935.1:g.130680C>T , LRG_287:g.130680C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.259C>T | ENSP00000434560.2:p.Arg87Cys | |
| ENST00000646564.2:c.478-12765C>T | ENSP00000495806.2:n.478-12765C>T | |
| ENST00000155840.12:c.520C>T MANE Select | ENSP00000155840.2:p.Arg174Cys | |
| ENST00000335475.6:c.139C>T | ENSP00000334497.5:p.Arg47Cys | |
| ENST00000646564.1:c.124-12765C>T | ENSP00000495806.1:n.124-12765C>T | |
| ENST00000155840.9:c.520C>T | ENSP00000155840.2:p.Arg174Cys | |
| ENST00000335475.5:c.139C>T | ENSP00000334497.5:p.Arg47Cys | |
| ENST00000496887.6:c.259C>T | ENSP00000434560.1:p.Arg87Cys | |
| NM_000218.2:c.520C>T , LRG_287t1:c.520C>T | NP_000209.2:p.Arg174Cys | |
| NM_181798.1:c.139C>T , LRG_287t2:c.139C>T | NP_861463.1:p.Arg47Cys | |
| NM_000218.3:c.520C>T MANE Select | NP_000209.2:p.Arg174Cys |