Linked Data
dbSNP Id:
rs2585417
gnomAD v2:
20-52843799-G-A
gnomAD v3:
20-54227260-G-A
gnomAD v4:
20-54227260-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.54227260G>A , CM000682.2:g.54227260G>A | GRCh38 |
| NC_000020.10:g.52843799G>A , CM000682.1:g.52843799G>A | GRCh37 |
| NC_000020.9:g.52277206G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000441080.2:c.*63-693G>A | ENSP00000432441.1:n.*63-693G>A |