Linked Data
ClinVar Variation Id:
67117
ClinVar RCV Id:
RCV000057785
RCV000182127
RCV000148555
RCV000621242
RCV000678913
RCV001331076
RCV001841692
dbSNP Id:
rs199472737
ExAC:
11:2594172 C / T
gnomAD v2:
11-2594172-C-T
gnomAD v3:
11-2572942-C-T
gnomAD v4:
11-2572942-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2572942C>T , CM000673.2:g.2572942C>T | GRCh38 |
| NC_000011.9:g.2594172C>T , CM000673.1:g.2594172C>T | GRCh37 |
| NC_000011.8:g.2550748C>T | NCBI36 |
| NG_008935.1:g.132952C>T , LRG_287:g.132952C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.616C>T | ENSP00000434560.2:p.Arg206Cys | |
| ENST00000646564.2:c.478-10493C>T | ENSP00000495806.2:n.478-10493C>T | |
| ENST00000155840.12:c.877C>T MANE Select | ENSP00000155840.2:p.Arg293Cys | |
| ENST00000335475.6:c.496C>T | ENSP00000334497.5:p.Arg166Cys | |
| ENST00000646564.1:c.124-10493C>T | ENSP00000495806.1:n.124-10493C>T | |
| ENST00000155840.9:c.877C>T | ENSP00000155840.2:p.Arg293Cys | |
| ENST00000335475.5:c.496C>T | ENSP00000334497.5:p.Arg166Cys | |
| NM_000218.2:c.877C>T , LRG_287t1:c.877C>T | NP_000209.2:p.Arg293Cys | |
| NM_181798.1:c.496C>T , LRG_287t2:c.496C>T | NP_861463.1:p.Arg166Cys | |
| NM_000218.3:c.877C>T MANE Select | NP_000209.2:p.Arg293Cys |