Linked Data
ClinVar Variation Id:
568636
ClinVar RCV Id:
RCV000689060
dbSNP Id:
rs1569013982
MyVariant Identifiers:
chr21:g.43417020G>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43417020G>C , CM000683.2:g.43417020G>C | GRCh38 |
| NG_052009.1:g.15113C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270162.8:c.2074C>G MANE Select | ENSP00000270162.6:p.Pro692Ala | |
| ENST00000270162.6:c.2074C>G | ENSP00000270162.6:p.Pro692Ala | |
| NM_173354.3:c.2074C>G | NP_775490.2:p.Pro692Ala | |
| XM_011529474.1:c.1927C>G | XP_011527776.1:p.Pro643Ala | |
| NM_173354.4:c.2074C>G | NP_775490.2:p.Pro692Ala | |
| XM_011529474.2:c.1927C>G | XP_011527776.1:p.Pro643Ala | |
| NM_173354.5:c.2074C>G MANE Select | NP_775490.2:p.Pro692Ala |