Linked Data
ClinVar Variation Id:
476148
ClinVar RCV Id:
RCV000540432
dbSNP Id:
rs779467380
ExAC:
17:7357798 C / T
gnomAD v2:
17-7357798-C-T
gnomAD v3:
17-7454479-C-T
gnomAD v4:
17-7454479-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7454479C>T , CM000679.2:g.7454479C>T | GRCh38 |
| NC_000017.10:g.7357798C>T , CM000679.1:g.7357798C>T | GRCh37 |
| NC_000017.9:g.7298522C>T | NCBI36 |
| NG_008026.1:g.14393C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306071.7:c.1003C>T MANE Select | ENSP00000304290.2:p.Arg335Cys | |
| ENST00000306071.6:c.1003C>T | ENSP00000304290.2:p.Arg335Cys | |
| ENST00000536404.6:c.787C>T | ENSP00000439209.2:p.Arg263Cys | |
| ENST00000570557.5:c.666C>T | ||
| ENST00000573209.1:n.1947C>T | ||
| ENST00000576360.1:c.640C>T | ENSP00000459092.1:p.Arg214Cys | |
| NM_000747.2:c.1003C>T | NP_000738.2:p.Arg335Cys | |
| NM_000747.3:c.1003C>T MANE Select | NP_000738.2:p.Arg335Cys |