Linked Data
dbSNP Id:
rs1040654555
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.22719982G>C , CM000669.2:g.22719982G>C | GRCh38 |
| NC_000007.13:g.22759601G>C , CM000669.1:g.22759601G>C | GRCh37 |
| NC_000007.12:g.22726126G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650428.1:n.46+7586C>G |