Linked Data
ClinVar Variation Id:
156263
ClinVar RCV Id:
RCV000162310
dbSNP Id:
rs587776380
ExAC:
9:131112800 C / T
gnomAD v2:
9-131112800-C-T
gnomAD v3:
9-128350521-C-T
gnomAD v4:
9-128350521-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128350521C>T , CM000671.2:g.128350521C>T | GRCh38 |
| NC_000009.11:g.131112800C>T , CM000671.1:g.131112800C>T | GRCh37 |
| NC_000009.10:g.130152621C>T | NCBI36 |
| NG_017057.1:g.14962C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300456.5:c.823C>T MANE Select | ENSP00000300456.3:p.Arg275Cys | |
| ENST00000300456.4:c.823C>T | ENSP00000300456.3:p.Arg275Cys | |
| ENST00000372870.5:c.232-4657C>T | ENSP00000361961.1:n.232-4657C>T | |
| NM_005094.3:c.823C>T | NP_005085.2:p.Arg275Cys | |
| XM_017014222.1:c.823C>T | XP_016869711.1:p.Arg275Cys | |
| XM_024447391.1:c.823C>T | XP_024303159.1:p.Arg275Cys | |
| NM_005094.4:c.823C>T MANE Select | NP_005085.2:p.Arg275Cys |