Linked Data
dbSNP Id:
rs762421
gnomAD v3:
21-44195678-G-A
gnomAD v4:
21-44195678-G-A
MyVariant Identifiers:
chr21:g.44195678G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44195678G>A , CM000683.2:g.44195678G>A | GRCh38 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644251.1:c.429-6372G>A | ENSP00000495305.1:n.429-6372G>A | |
| ENST00000645487.1:c.*202-1493G>A | ENSP00000494347.1:n.*202-1493G>A | |
| ENST00000646873.1:c.313-12235G>A |