Linked Data
ClinVar Variation Id:
294869
ClinVar RCV Id:
RCV000333709
dbSNP Id:
rs886045825
gnomAD v3:
1-201331645-C-T
gnomAD v4:
1-201331645-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201331645C>T , CM000663.2:g.201331645C>T | GRCh38 |
| NC_000001.10:g.201300773C>T , CM000663.1:g.201300773C>T | GRCh37 |
| NC_000001.9:g.199567396C>T | NCBI36 |
| NG_023337.1:g.53194C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367324.8:c.*1604C>T MANE Select | ENSP00000356293.4:n.*1604C>T | |
| ENST00000263946.7:c.*1604C>T | ENSP00000263946.3:n.*1604C>T | |
| ENST00000367324.7:c.*1604C>T | ENSP00000356293.3:n.*1604C>T | |
| NM_000299.3:c.*1604C>T | NP_000290.2:n.*1604C>T | |
| NM_001005337.2:c.*1604C>T | NP_001005337.1:n.*1604C>T | |
| NM_001005337.3:c.*1604C>T MANE Select | NP_001005337.1:n.*1604C>T | |
| NM_000299.4:c.*1604C>T | NP_000290.2:n.*1604C>T |