Linked Data
ClinVar Variation Id:
630138
ClinVar RCV Id:
RCV000775256
dbSNP Id:
rs747713772
ExAC:
1:55505646 C / T
gnomAD v2:
1-55505646-C-T
gnomAD v4:
1-55039973-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55039973C>T , CM000663.2:g.55039973C>T | GRCh38 |
| NC_000001.10:g.55505646C>T , CM000663.1:g.55505646C>T | GRCh37 |
| NC_000001.9:g.55278234C>T | NCBI36 |
| NG_009061.1:g.5427C>T , LRG_275:g.5427C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.136C>T | ENSP00000501161.2:p.Arg46Cys | |
| ENST00000710286.1:c.493C>T | ENSP00000518176.1:p.Arg165Cys | |
| ENST00000673726.1:c.136C>T | ENSP00000501004.1:p.Arg46Cys | |
| ENST00000302118.5:c.136C>T MANE Select | ENSP00000303208.5:p.Arg46Cys | |
| NM_174936.3:c.136C>T , LRG_275t1:c.136C>T | NP_777596.2:p.Arg46Cys | |
| NM_174936.4:c.136C>T MANE Select | NP_777596.2:p.Arg46Cys |