Linked Data
dbSNP Id:
rs11662748
gnomAD v2:
18-5762618-G-A
gnomAD v3:
18-5762619-G-A
gnomAD v4:
18-5762619-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.5762619G>A , CM000680.2:g.5762619G>A | GRCh38 |
| NC_000018.9:g.5762618G>A , CM000680.1:g.5762618G>A | GRCh37 |
| NC_000018.8:g.5752618G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_038839.1:n.322+146G>A | ||
| NR_172494.1:n.342+146G>A | ||
| NR_172495.1:n.342+146G>A | ||
| NR_172496.1:n.342+146G>A | ||
| NR_172497.1:n.342+146G>A | ||
| NR_172498.1:n.402+146G>A | ||
| NR_172499.1:n.342+146G>A | ||
| NR_172500.1:n.342+146G>A | ||
| NR_172501.1:n.342+146G>A | ||
| NR_172502.1:n.342+146G>A | ||
| NR_172503.1:n.342+146G>A |