Linked Data
ClinVar Variation Id:
321397
ClinVar RCV Id:
RCV000268398
dbSNP Id:
rs868197501
gnomAD v2:
16-89985067-C-T
gnomAD v3:
16-89918659-C-T
gnomAD v4:
16-89918659-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89918659C>T , CM000678.2:g.89918659C>T | GRCh38 |
| NC_000016.9:g.89985067C>T , CM000678.1:g.89985067C>T | GRCh37 |
| NC_000016.8:g.88512568C>T | NCBI36 |
| NG_012026.1:g.5781C>T | |
| NG_027810.1:g.1651C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000639847.1:c.-408-192C>T | ENSP00000492011.1:n.-408-192C>T | |
| ENST00000555147.1:c.-600C>T | ENSP00000451605.1:n.-600C>T | |
| ENST00000555427.1:c.-408-192C>T | ENSP00000451760.1:n.-408-192C>T | |
| NM_002386.3:c.-600C>T | NP_002377.4:n.-600C>T |