Linked Data
dbSNP Id:
rs12606301
gnomAD v2:
18-40023782-G-A
gnomAD v3:
18-42443817-G-A
gnomAD v4:
18-42443817-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.42443817G>A , CM000680.2:g.42443817G>A | GRCh38 |
| NC_000018.9:g.40023782G>A , CM000680.1:g.40023782G>A | GRCh37 |
| NC_000018.8:g.38277780G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_046174.2:n.623-10115G>A | ||
| NR_046454.1:n.403-10115G>A | ||
| NR_046455.1:n.240-10115G>A | ||
| NR_046456.1:n.714-10115G>A | ||
| NR_046457.1:n.494-10115G>A |