Linked Data
dbSNP Id:
rs1848748556
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.112319060T>C , CM000672.2:g.112319060T>C | GRCh38 |
| NC_000010.10:g.114078818T>C , CM000672.1:g.114078818T>C | GRCh37 |
| NC_000010.9:g.114068808T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000479705.5:n.2245-1004A>G | ||
| ENST00000490269.1:n.461-1004A>G | ||
| NR_028134.1:n.1994-1004A>G |