Linked Data
ClinVar Variation Id:
2040291
ClinVar RCV Id:
RCV002912455
MyVariant Identifiers:
chr21:g.43416971A>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43416971A>G , CM000683.2:g.43416971A>G | GRCh38 |
| NG_052009.1:g.15162T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270162.8:c.2123T>C MANE Select | ENSP00000270162.6:p.Leu708Pro | |
| ENST00000270162.6:c.2123T>C | ENSP00000270162.6:p.Leu708Pro | |
| NM_173354.3:c.2123T>C | NP_775490.2:p.Leu708Pro | |
| XM_011529474.1:c.1976T>C | XP_011527776.1:p.Leu659Pro | |
| NM_173354.4:c.2123T>C | NP_775490.2:p.Leu708Pro | |
| XM_011529474.2:c.1976T>C | XP_011527776.1:p.Leu659Pro | |
| NM_173354.5:c.2123T>C MANE Select | NP_775490.2:p.Leu708Pro |