Linked Data
dbSNP Id:
rs12742923
gnomAD v2:
1-83489844-C-T
gnomAD v3:
1-83024161-C-T
gnomAD v4:
1-83024161-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.83024161C>T , CM000663.2:g.83024161C>T | GRCh38 |
| NC_000001.10:g.83489844C>T , CM000663.1:g.83489844C>T | GRCh37 |
| NC_000001.9:g.83262432C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_147074.1:n.1056+26572C>T | ||
| XR_001738121.1:n.2115-2733G>A |