Linked Data
ClinVar Variation Id:
302217
ClinVar RCV Id:
RCV000315243
dbSNP Id:
rs79179095
gnomAD v2:
11-108018367-C-T
gnomAD v3:
11-108147640-C-T
gnomAD v4:
11-108147640-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108147640C>T , CM000673.2:g.108147640C>T | GRCh38 |
| NC_000011.9:g.108018367C>T , CM000673.1:g.108018367C>T | GRCh37 |
| NC_000011.8:g.107523577C>T | NCBI36 |
| NG_009888.1:g.31110C>T | |
| NG_009888.2:g.35936C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265838.8:c.*250C>T | ENSP00000265838.4:n.*250C>T | |
| NM_000019.3:c.*250C>T | NP_000010.1:n.*250C>T | |
| XM_006718834.2:c.*250C>T | XP_006718897.1:n.*250C>T | |
| XM_006718835.2:c.*250C>T | XP_006718898.1:n.*250C>T | |
| XM_017017682.2:c.*250C>T | XP_016873171.1:n.*250C>T | |
| XM_017017683.2:c.*250C>T | XP_016873172.1:n.*250C>T |