Linked Data
dbSNP Id:
rs190982
gnomAD v2:
5-88223420-G-A
gnomAD v3:
5-88927603-G-A
gnomAD v4:
5-88927603-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.88927603G>A , CM000667.2:g.88927603G>A | GRCh38 |
| NC_000005.9:g.88223420G>A , CM000667.1:g.88223420G>A | GRCh37 |
| NC_000005.8:g.88259176G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_104031.1:n.236-15413G>A | ||
| NR_109940.1:n.308-13210G>A | ||
| NR_109941.1:n.290+21830G>A | ||
| NR_136217.1:n.235+22333G>A | ||
| NR_136218.1:n.219-15413G>A | ||
| NR_136219.1:n.218+22333G>A | ||
| NR_136220.1:n.145-15413G>A | ||
| NR_136221.1:n.144+22333G>A | ||
| NR_136222.1:n.235+22333G>A |