Linked Data
dbSNP Id:
rs2285053
gnomAD v2:
16-55512377-C-T
gnomAD v3:
16-55478465-C-T
gnomAD v4:
16-55478465-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.55478465C>T , CM000678.2:g.55478465C>T | GRCh38 |
| NC_000016.9:g.55512377C>T , CM000678.1:g.55512377C>T | GRCh37 |
| NC_000016.8:g.54069878C>T | NCBI36 |
| NG_008989.1:g.4297C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000570308.5:c.-75-4444C>T | ENSP00000461421.1:n.-75-4444C>T |