Linked Data
ClinVar Variation Id:
376023
ClinVar RCV Id:
RCV000444682
dbSNP Id:
rs371246226
gnomAD v3:
21-43094667-T-C
gnomAD v4:
21-43094667-T-C
MyVariant Identifiers:
chr21:g.43094667T>C (hg38)
PubMed:
PMID:22158538
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43094667T>C , CM000683.2:g.43094667T>C | GRCh38 |
| NG_029455.1:g.17912A>G , LRG_615:g.17912A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000291552.9:c.470A>G MANE Select | ENSP00000291552.4:p.Gln157Arg | |
| ENST00000291552.8:c.470A>G | ENSP00000291552.4:p.Gln157Arg | |
| ENST00000380276.6:c.470A>G | ENSP00000369629.2:p.Gln157Arg | |
| ENST00000398137.5:c.251A>G | ENSP00000381205.1:p.Gln84Arg | |
| ENST00000459639.5:c.251A>G | ENSP00000418705.1:p.Gln84Arg | |
| ENST00000464750.5:c.*309A>G | ENSP00000420672.1:n.*309A>G | |
| ENST00000471250.5:n.1277A>G | ||
| ENST00000475639.5:n.4295A>G | ||
| ENST00000478282.1:n.1724A>G | ||
| ENST00000486519.5:n.517A>G | ||
| NM_001025203.1:c.470A>G , LRG_615t1:c.470A>G | NP_001020374.1:p.Gln157Arg | |
| NM_001025204.1:c.251A>G | NP_001020375.1:p.Gln84Arg | |
| NM_006758.2:c.470A>G , LRG_615t2:c.470A>G | NP_006749.1:p.Gln157Arg | |
| XM_011529743.1:c.371A>G | XP_011528045.1:p.Gln124Arg | |
| XM_011529743.3:c.371A>G | XP_011528045.1:p.Gln124Arg | |
| XM_017028468.2:c.371A>G | XP_016883957.1:p.Gln124Arg | |
| XM_024452129.1:c.251A>G | XP_024307897.1:p.Gln84Arg | |
| XM_024452130.1:c.251A>G | XP_024307898.1:p.Gln84Arg | |
| XM_024452131.1:c.251A>G | XP_024307899.1:p.Gln84Arg | |
| NM_001025204.2:c.251A>G | NP_001020375.1:p.Gln84Arg | |
| NM_006758.3:c.470A>G MANE Select | NP_006749.1:p.Gln157Arg |