Linked Data
ClinVar Variation Id:
127
ClinVar RCV Id:
RCV000000150
RCV000179250
RCV000458159
RCV002227959
RCV002310622
RCV002265542
RCV004540986
dbSNP Id:
rs121964970
gnomAD v4:
21-43065645-C-T
MyVariant Identifiers:
chr21:g.43065645C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43065645C>T , CM000683.2:g.43065645C>T | GRCh38 |
| NG_008938.1:g.15286G>A , LRG_777:g.15286G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398165.8:c.502G>A MANE Select | ENSP00000381231.4:p.Val168Met | |
| ENST00000352178.9:c.502G>A | ENSP00000344460.5:p.Val168Met | |
| ENST00000359624.7:c.502G>A | ENSP00000352643.3:p.Val168Met | |
| ENST00000398158.5:c.502G>A | ENSP00000381225.1:p.Val168Met | |
| ENST00000398165.7:c.502G>A | ENSP00000381231.3:p.Val168Met | |
| ENST00000441030.5:c.502G>A | ENSP00000388235.1:p.Val168Met | |
| ENST00000461686.5:n.813G>A | ||
| NM_000071.2:c.502G>A , LRG_777t1:c.502G>A | NP_000062.1:p.Val168Met | |
| NM_001178008.1:c.502G>A | NP_001171479.1:p.Val168Met | |
| NM_001178009.1:c.502G>A | NP_001171480.1:p.Val168Met | |
| XM_011529773.1:c.553G>A | XP_011528075.1:p.Val185Met | |
| XM_011529774.1:c.553G>A | XP_011528076.1:p.Val185Met | |
| XM_011529775.1:c.553G>A | XP_011528077.1:p.Val185Met | |
| XM_011529776.1:c.553G>A | XP_011528078.1:p.Val185Met | |
| XM_011529777.1:c.502G>A | XP_011528079.1:p.Val168Met | |
| XM_011529778.1:c.502G>A | XP_011528080.1:p.Val168Met | |
| XM_011529779.1:c.502G>A | XP_011528081.1:p.Val168Met | |
| XM_011529781.1:c.502G>A | XP_011528083.1:p.Val168Met | |
| XM_011529782.1:c.502G>A | XP_011528084.1:p.Val168Met | |
| XM_011529783.1:c.187G>A | XP_011528085.1:p.Val63Met | |
| XM_011529784.1:c.187G>A | XP_011528086.1:p.Val63Met | |
| NM_001178008.2:c.502G>A | NP_001171479.1:p.Val168Met | |
| NM_001178009.2:c.502G>A | NP_001171480.1:p.Val168Met | |
| NM_001320298.1:c.502G>A | NP_001307227.1:p.Val168Met | |
| NM_001321072.1:c.187G>A | NP_001308001.1:p.Val63Met | |
| XM_011529774.2:c.553G>A | XP_011528076.1:p.Val185Met | |
| XM_011529777.2:c.502G>A | XP_011528079.1:p.Val168Met | |
| XM_011529783.2:c.187G>A | XP_011528085.1:p.Val63Met | |
| XM_017028491.2:c.502G>A | XP_016883980.1:p.Val168Met | |
| XM_024452136.1:c.553G>A | XP_024307904.1:p.Val185Met | |
| XM_024452137.1:c.553G>A | XP_024307905.1:p.Val185Met | |
| XM_024452138.1:c.187G>A | XP_024307906.1:p.Val63Met | |
| XM_024452139.1:c.187G>A | XP_024307907.1:p.Val63Met | |
| XM_024452140.1:c.187G>A | XP_024307908.1:p.Val63Met | |
| XR_001754915.1:n.873G>A | ||
| XR_001754916.2:n.652G>A | ||
| XR_001754917.2:n.652G>A | ||
| XR_002958634.1:n.652G>A | ||
| NM_000071.3:c.502G>A MANE Select | NP_000062.1:p.Val168Met | |
| NM_001178009.3:c.502G>A | NP_001171480.1:p.Val168Met | |
| NM_001178008.3:c.502G>A | NP_001171479.1:p.Val168Met | |
| NM_001320298.2:c.502G>A | NP_001307227.1:p.Val168Met |