Linked Data
dbSNP Id:
rs11596008
gnomAD v2:
10-101287314-C-T
gnomAD v3:
10-99527557-C-T
gnomAD v4:
10-99527557-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99527557C>T , CM000672.2:g.99527557C>T | GRCh38 |
| NC_000010.10:g.101287314C>T , CM000672.1:g.101287314C>T | GRCh37 |
| NC_000010.9:g.101277304C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_120618.1:n.577+249G>A |