Linked Data
dbSNP Id:
rs12922061
gnomAD v2:
16-52635000-C-T
gnomAD v3:
16-52601088-C-T
gnomAD v4:
16-52601088-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.52601088C>T , CM000678.2:g.52601088C>T | GRCh38 |
| NC_000016.9:g.52635000C>T , CM000678.1:g.52635000C>T | GRCh37 |
| NC_000016.8:g.51192501C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_033920.1:n.472+5416G>A |