Linked Data
ClinVar Variation Id:
2369368
ClinVar RCV Id:
RCV004214017
dbSNP Id:
rs764595813
ExAC:
8:104390348 C / T
gnomAD v2:
8-104390348-C-T
gnomAD v3:
8-103378120-C-T
gnomAD v4:
8-103378120-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.103378120C>T , CM000670.2:g.103378120C>T | GRCh38 |
| NC_000008.10:g.104390348C>T , CM000670.1:g.104390348C>T | GRCh37 |
| NC_000008.9:g.104459524C>T | NCBI36 |
| NG_031985.1:g.11606C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330295.10:c.466C>T MANE Select | ENSP00000330523.5:p.Arg156Cys | |
| ENST00000330295.9:c.466C>T | ENSP00000330523.5:p.Arg156Cys | |
| ENST00000520337.1:c.424C>T | ENSP00000430550.1:p.Arg142Cys | |
| ENST00000520880.1:c.76C>T | ENSP00000430399.1:p.Arg26Cys | |
| NM_001256099.1:c.424C>T | NP_001243028.1:p.Arg142Cys | |
| NM_138455.3:c.466C>T | NP_612464.1:p.Arg156Cys | |
| XM_011516824.1:c.372+2161C>T | XP_011515126.1:n.372+2161C>T | |
| XM_011516824.2:c.372+2161C>T | XP_011515126.1:n.372+2161C>T | |
| NM_138455.4:c.466C>T MANE Select | NP_612464.1:p.Arg156Cys | |
| NM_001256099.2:c.424C>T | NP_001243028.1:p.Arg142Cys |