Linked Data
dbSNP Id:
rs1985730044
gnomAD v3:
21-43169103-G-A
gnomAD v4:
21-43169103-G-A
MyVariant Identifiers:
chr21:g.43169103G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43169103G>A , CM000683.2:g.43169103G>A | GRCh38 |
| NG_009823.1:g.5073G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291554.6:c.4G>A MANE Select | ENSP00000291554.2:p.Asp2Asn | |
| ENST00000482775.1:n.17G>A | ||
| NM_000394.3:c.4G>A | NP_000385.1:p.Asp2Asn | |
| XR_001755073.1:n.647+1934C>T | ||
| NM_000394.4:c.4G>A MANE Select | NP_000385.1:p.Asp2Asn |