Linked Data
ClinVar Variation Id:
589068
dbSNP Id:
rs763160252
gnomAD v3:
21-43417061-T-G
gnomAD v4:
21-43417061-T-G
MyVariant Identifiers:
chr21:g.43417061T>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43417061T>G , CM000683.2:g.43417061T>G | GRCh38 |
| NG_052009.1:g.15072A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270162.8:c.2033A>C MANE Select | ENSP00000270162.6:p.Gln678Pro | |
| ENST00000270162.6:c.2033A>C | ENSP00000270162.6:p.Gln678Pro | |
| NM_173354.3:c.2033A>C | NP_775490.2:p.Gln678Pro | |
| XM_011529474.1:c.1886A>C | XP_011527776.1:p.Gln629Pro | |
| NM_173354.4:c.2033A>C | NP_775490.2:p.Gln678Pro | |
| XM_011529474.2:c.1886A>C | XP_011527776.1:p.Gln629Pro | |
| NM_173354.5:c.2033A>C MANE Select | NP_775490.2:p.Gln678Pro |