Linked Data
dbSNP Id:
rs1783923145
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.22720049T>G , CM000669.2:g.22720049T>G | GRCh38 |
| NC_000007.13:g.22759668T>G , CM000669.1:g.22759668T>G | GRCh37 |
| NC_000007.12:g.22726193T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650428.1:n.46+7519A>C |