Linked Data
ClinVar Variation Id:
1603493
ClinVar RCV Id:
RCV002142082
dbSNP Id:
rs2040488791
MyVariant Identifiers:
chr21:g.45706892G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44287009G>A , CM000683.2:g.44287009G>A | GRCh38 |
| NC_000021.8:g.45706892G>A , CM000683.1:g.45706892G>A | GRCh37 |
| NC_000021.7:g.44531320G>A | NCBI36 |
| NG_009556.1:g.6130G>A , LRG_18:g.6130G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.339G>A MANE Select | ENSP00000291582.5:p.Arg113= | |
| ENST00000291582.5:c.339G>A | ENSP00000291582.5:p.Arg113= | |
| ENST00000527919.5:n.500G>A | ||
| ENST00000530812.5:n.508G>A | ||
| NM_000383.3:c.339G>A | NP_000374.1:p.Arg113= | |
| XM_011529551.1:c.339G>A | XP_011527853.1:p.Arg113= | |
| NM_000383.4:c.339G>A MANE Select | NP_000374.1:p.Arg113= |