Linked Data
dbSNP Id:
rs17427960
gnomAD v2:
7-27242466-C-A
gnomAD v3:
7-27202847-C-A
gnomAD v4:
7-27202847-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.27202847C>A , CM000669.2:g.27202847C>A | GRCh38 |
| NC_000007.13:g.27242466C>A , CM000669.1:g.27242466C>A | GRCh37 |
| NC_000007.12:g.27208991C>A | NCBI36 |
| NG_008181.1:g.2260G>T | |
| NG_008181.2:g.2260G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_037843.3:n.2117+209C>A |