Linked Data
dbSNP Id:
rs11696845
gnomAD v2:
20-43371320-C-T
gnomAD v3:
20-44742679-C-T
gnomAD v4:
20-44742679-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44742679C>T , CM000682.2:g.44742679C>T | GRCh38 |
| NC_000020.10:g.43371320C>T , CM000682.1:g.43371320C>T | GRCh37 |
| NC_000020.9:g.42804734C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_132377.1:n.263+3286G>A |