Linked Data
ClinVar Variation Id:
53016
ClinVar RCV Id:
RCV000057635
dbSNP Id:
rs199473483
gnomAD v2:
11-2799244-C-T
gnomAD v4:
11-2778014-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2778014C>T , CM000673.2:g.2778014C>T | GRCh38 |
| NC_000011.9:g.2799244C>T , CM000673.1:g.2799244C>T | GRCh37 |
| NC_000011.8:g.2755820C>T | NCBI36 |
| NG_008935.1:g.338024C>T , LRG_287:g.338024C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000496887.7:c.1414C>T | ENSP00000434560.2:p.Arg472Cys | |
| ENST00000646564.2:c.1231C>T | ENSP00000495806.2:p.Arg411Cys | |
| ENST00000155840.12:c.1771C>T MANE Select | ENSP00000155840.2:p.Arg591Cys | |
| ENST00000335475.6:c.1390C>T | ENSP00000334497.5:p.Arg464Cys | |
| ENST00000526095.2:c.175C>T | ENSP00000494939.1:p.Arg59Cys | |
| ENST00000646564.1:c.877C>T | ENSP00000495806.1:p.Arg293Cys | |
| ENST00000155840.9:c.1771C>T | ENSP00000155840.2:p.Arg591Cys | |
| ENST00000335475.5:c.1390C>T | ENSP00000334497.5:p.Arg464Cys | |
| ENST00000526095.1:n.278C>T | ||
| NM_000218.2:c.1771C>T , LRG_287t1:c.1771C>T | NP_000209.2:p.Arg591Cys | |
| NM_181798.1:c.1390C>T , LRG_287t2:c.1390C>T | NP_861463.1:p.Arg464Cys | |
| NM_000218.3:c.1771C>T MANE Select | NP_000209.2:p.Arg591Cys |