Linked Data
ClinVar Variation Id:
2996140
ClinVar RCV Id:
RCV003856291
MyVariant Identifiers:
chr21:g.43416899A>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43416899A>C , CM000683.2:g.43416899A>C | GRCh38 |
| NG_052009.1:g.15234T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270162.8:c.2195T>G MANE Select | ENSP00000270162.6:p.Leu732Arg | |
| ENST00000270162.6:c.2195T>G | ENSP00000270162.6:p.Leu732Arg | |
| NM_173354.3:c.2195T>G | NP_775490.2:p.Leu732Arg | |
| XM_011529474.1:c.2048T>G | XP_011527776.1:p.Leu683Arg | |
| NM_173354.4:c.2195T>G | NP_775490.2:p.Leu732Arg | |
| XM_011529474.2:c.2048T>G | XP_011527776.1:p.Leu683Arg | |
| NM_173354.5:c.2195T>G MANE Select | NP_775490.2:p.Leu732Arg |