Linked Data
ClinVar Variation Id:
1055487
ClinVar RCV Id:
RCV001364164
dbSNP Id:
rs2146468135
MyVariant Identifiers:
chr21:g.43417103T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43417103T>C , CM000683.2:g.43417103T>C | GRCh38 |
| NG_052009.1:g.15030A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270162.8:c.1991A>G MANE Select | ENSP00000270162.6:p.Gln664Arg | |
| ENST00000270162.6:c.1991A>G | ENSP00000270162.6:p.Gln664Arg | |
| NM_173354.3:c.1991A>G | NP_775490.2:p.Gln664Arg | |
| XM_011529474.1:c.1844A>G | XP_011527776.1:p.Gln615Arg | |
| NM_173354.4:c.1991A>G | NP_775490.2:p.Gln664Arg | |
| XM_011529474.2:c.1844A>G | XP_011527776.1:p.Gln615Arg | |
| NM_173354.5:c.1991A>G MANE Select | NP_775490.2:p.Gln664Arg |