Linked Data
ClinVar Variation Id:
2416792
ClinVar RCV Id:
RCV003109043
dbSNP Id:
rs1272074913
MyVariant Identifiers:
chr21:g.43417041C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43417041C>T , CM000683.2:g.43417041C>T | GRCh38 |
| NG_052009.1:g.15092G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270162.8:c.2053G>A MANE Select | ENSP00000270162.6:p.Val685Met | |
| ENST00000270162.6:c.2053G>A | ENSP00000270162.6:p.Val685Met | |
| NM_173354.3:c.2053G>A | NP_775490.2:p.Val685Met | |
| XM_011529474.1:c.1906G>A | XP_011527776.1:p.Val636Met | |
| NM_173354.4:c.2053G>A | NP_775490.2:p.Val685Met | |
| XM_011529474.2:c.1906G>A | XP_011527776.1:p.Val636Met | |
| NM_173354.5:c.2053G>A MANE Select | NP_775490.2:p.Val685Met |