Linked Data
ClinVar Variation Id:
1397751
ClinVar RCV Id:
RCV001912599
dbSNP Id:
rs1223738587
gnomAD v3:
21-43417056-C-T
gnomAD v4:
21-43417056-C-T
MyVariant Identifiers:
chr21:g.43417056C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43417056C>T , CM000683.2:g.43417056C>T | GRCh38 |
| NG_052009.1:g.15077G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270162.8:c.2038G>A MANE Select | ENSP00000270162.6:p.Ala680Thr | |
| ENST00000270162.6:c.2038G>A | ENSP00000270162.6:p.Ala680Thr | |
| NM_173354.3:c.2038G>A | NP_775490.2:p.Ala680Thr | |
| XM_011529474.1:c.1891G>A | XP_011527776.1:p.Ala631Thr | |
| NM_173354.4:c.2038G>A | NP_775490.2:p.Ala680Thr | |
| XM_011529474.2:c.1891G>A | XP_011527776.1:p.Ala631Thr | |
| NM_173354.5:c.2038G>A MANE Select | NP_775490.2:p.Ala680Thr |