Linked Data
dbSNP Id:
rs11252845
gnomAD v2:
10-4993815-C-T
gnomAD v3:
10-4951623-C-T
gnomAD v4:
10-4951623-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.4951623C>T , CM000672.2:g.4951623C>T | GRCh38 |
| NC_000010.10:g.4993815C>T , CM000672.1:g.4993815C>T | GRCh37 |
| NC_000010.9:g.4983815C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000407674.5:c.930-28998G>A | ENSP00000385221.2:n.930-28998G>A |