Linked Data
ClinVar Variation Id:
320204
ClinVar RCV Id:
RCV000339062
dbSNP Id:
rs150247850
gnomAD v2:
16-68678604-T-C
gnomAD v3:
16-68644701-T-C
gnomAD v4:
16-68644701-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68644701T>C , CM000678.2:g.68644701T>C | GRCh38 |
| NC_000016.9:g.68678604T>C , CM000678.1:g.68678604T>C | GRCh37 |
| NC_000016.8:g.67236105T>C | NCBI36 |
| NG_009096.1:g.5454T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000565453.1:n.223-308T>C | ||
| NM_001793.4:c.-679T>C | NP_001784.2:n.-679T>C |