Linked Data
ClinVar Variation Id:
872803
ClinVar RCV Id:
RCV001093460
dbSNP Id:
rs2049603364
gnomAD v4:
21-31667330-G-A
MyVariant Identifiers:
chr21:g.33039643G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31667330G>A , CM000683.2:g.31667330G>A | GRCh38 |
| NC_000021.8:g.33039643G>A , CM000683.1:g.33039643G>A | GRCh37 |
| NC_000021.7:g.31961514G>A | NCBI36 |
| NG_008689.1:g.12709G>A , LRG_652:g.12709G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270142.11:c.312G>A MANE Select | ENSP00000270142.7:p.Val104= | |
| ENST00000270142.10:c.312G>A | ENSP00000270142.6:p.Val104= | |
| ENST00000389995.4:c.255G>A | ENSP00000374645.4:p.Val85= | |
| ENST00000470944.1:n.1240G>A | ||
| ENST00000476106.5:n.575G>A | ||
| NM_000454.4:c.312G>A , LRG_652t1:c.312G>A | NP_000445.1:p.Val104= | |
| NM_000454.5:c.312G>A MANE Select | NP_000445.1:p.Val104= |