Linked Data
ClinVar Variation Id:
2738105
ClinVar RCV Id:
RCV003523420
MyVariant Identifiers:
chr21:g.45708292A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44288409A>G , CM000683.2:g.44288409A>G | GRCh38 |
| NC_000021.8:g.45708292A>G , CM000683.1:g.45708292A>G | GRCh37 |
| NC_000021.7:g.44532720A>G | NCBI36 |
| NG_009556.1:g.7530A>G , LRG_18:g.7530A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.603A>G MANE Select | ENSP00000291582.5:p.Gly201= | |
| ENST00000291582.5:c.603A>G | ENSP00000291582.5:p.Gly201= | |
| ENST00000527919.5:n.1147A>G | ||
| ENST00000530812.5:n.1155A>G | ||
| NM_000383.3:c.603A>G | NP_000374.1:p.Gly201= | |
| XM_011529551.1:c.603A>G | XP_011527853.1:p.Gly201= | |
| NM_000383.4:c.603A>G MANE Select | NP_000374.1:p.Gly201= |