Linked Data
ClinVar Variation Id:
940215
ClinVar RCV Id:
RCV002241073
dbSNP Id:
rs1982605960
gnomAD v3:
21-43065629-A-C
gnomAD v4:
21-43065629-A-C
MyVariant Identifiers:
chr21:g.43065629A>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43065629A>C , CM000683.2:g.43065629A>C | GRCh38 |
| NG_008938.1:g.15302T>G , LRG_777:g.15302T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398165.8:c.518T>G MANE Select | ENSP00000381231.4:p.Met173Arg | |
| ENST00000352178.9:c.518T>G | ENSP00000344460.5:p.Met173Arg | |
| ENST00000359624.7:c.518T>G | ENSP00000352643.3:p.Met173Arg | |
| ENST00000398158.5:c.518T>G | ENSP00000381225.1:p.Met173Arg | |
| ENST00000398165.7:c.518T>G | ENSP00000381231.3:p.Met173Arg | |
| ENST00000441030.5:c.518T>G | ENSP00000388235.1:p.Met173Arg | |
| ENST00000461686.5:n.829T>G | ||
| NM_000071.2:c.518T>G , LRG_777t1:c.518T>G | NP_000062.1:p.Met173Arg | |
| NM_001178008.1:c.518T>G | NP_001171479.1:p.Met173Arg | |
| NM_001178009.1:c.518T>G | NP_001171480.1:p.Met173Arg | |
| XM_011529773.1:c.569T>G | XP_011528075.1:p.Met190Arg | |
| XM_011529774.1:c.569T>G | XP_011528076.1:p.Met190Arg | |
| XM_011529775.1:c.569T>G | XP_011528077.1:p.Met190Arg | |
| XM_011529776.1:c.569T>G | XP_011528078.1:p.Met190Arg | |
| XM_011529777.1:c.518T>G | XP_011528079.1:p.Met173Arg | |
| XM_011529778.1:c.518T>G | XP_011528080.1:p.Met173Arg | |
| XM_011529779.1:c.518T>G | XP_011528081.1:p.Met173Arg | |
| XM_011529781.1:c.518T>G | XP_011528083.1:p.Met173Arg | |
| XM_011529782.1:c.518T>G | XP_011528084.1:p.Met173Arg | |
| XM_011529783.1:c.203T>G | XP_011528085.1:p.Met68Arg | |
| XM_011529784.1:c.203T>G | XP_011528086.1:p.Met68Arg | |
| NM_001178008.2:c.518T>G | NP_001171479.1:p.Met173Arg | |
| NM_001178009.2:c.518T>G | NP_001171480.1:p.Met173Arg | |
| NM_001320298.1:c.518T>G | NP_001307227.1:p.Met173Arg | |
| NM_001321072.1:c.203T>G | NP_001308001.1:p.Met68Arg | |
| XM_011529774.2:c.569T>G | XP_011528076.1:p.Met190Arg | |
| XM_011529777.2:c.518T>G | XP_011528079.1:p.Met173Arg | |
| XM_011529783.2:c.203T>G | XP_011528085.1:p.Met68Arg | |
| XM_017028491.2:c.518T>G | XP_016883980.1:p.Met173Arg | |
| XM_024452136.1:c.569T>G | XP_024307904.1:p.Met190Arg | |
| XM_024452137.1:c.569T>G | XP_024307905.1:p.Met190Arg | |
| XM_024452138.1:c.203T>G | XP_024307906.1:p.Met68Arg | |
| XM_024452139.1:c.203T>G | XP_024307907.1:p.Met68Arg | |
| XM_024452140.1:c.203T>G | XP_024307908.1:p.Met68Arg | |
| XR_001754915.1:n.889T>G | ||
| XR_001754916.2:n.668T>G | ||
| XR_001754917.2:n.668T>G | ||
| XR_002958634.1:n.668T>G | ||
| NM_000071.3:c.518T>G MANE Select | NP_000062.1:p.Met173Arg | |
| NM_001178009.3:c.518T>G | NP_001171480.1:p.Met173Arg | |
| NM_001178008.3:c.518T>G | NP_001171479.1:p.Met173Arg | |
| NM_001320298.2:c.518T>G | NP_001307227.1:p.Met173Arg |