Linked Data
dbSNP Id:
rs1947075334
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.3804241G>T , CM000674.2:g.3804241G>T | GRCh38 |
| NC_000012.11:g.3913407G>T , CM000674.1:g.3913407G>T | GRCh37 |
| NC_000012.10:g.3783668G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000416739.5:c.*196+2647C>A | ENSP00000392392.1:n.*196+2647C>A |