Linked Data
ClinVar Variation Id:
339740
ClinVar RCV Id:
RCV001786371
dbSNP Id:
rs57555550
gnomAD v3:
21-34447430-T-C
gnomAD v4:
21-34447430-T-C
MyVariant Identifiers:
chr21:g.34447430T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34447430T>C , CM000683.2:g.34447430T>C | GRCh38 |
| NG_009091.1:g.68886A>G , LRG_290:g.68886A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000399286.3:c.*1815A>G MANE Select | ENSP00000382226.2:n.*1815A>G | |
| ENST00000337385.7:c.*1815A>G | ENSP00000337255.3:n.*1815A>G | |
| ENST00000399289.7:c.*1815A>G | ENSP00000382228.3:n.*1815A>G | |
| ENST00000432085.5:c.*1815A>G | ENSP00000412498.1:n.*1815A>G | |
| ENST00000611936.1:c.*1815A>G | ENSP00000478215.1:n.*1815A>G | |
| ENST00000621601.4:c.*1815A>G | ENSP00000483895.1:n.*1815A>G | |
| NM_000219.5:c.*1815A>G | NP_000210.2:n.*1815A>G | |
| NM_001127668.3:c.*1815A>G | NP_001121140.1:n.*1815A>G | |
| NM_001127669.3:c.*1815A>G | NP_001121141.1:n.*1815A>G | |
| NM_001127670.3:c.*1815A>G | NP_001121142.1:n.*1815A>G | |
| NM_001270402.2:c.*1815A>G | NP_001257331.1:n.*1815A>G | |
| NM_001270403.2:c.*1815A>G | NP_001257332.1:n.*1815A>G | |
| NM_001270404.2:c.*1815A>G | NP_001257333.1:n.*1815A>G | |
| NM_001270405.2:c.*1815A>G | NP_001257334.1:n.*1815A>G | |
| XM_011529555.1:c.13+7956A>G | XP_011527857.1:n.13+7956A>G | |
| XM_011529557.1:c.279+11224A>G | XP_011527859.1:n.279+11224A>G | |
| XM_017028342.1:c.*1815A>G | XP_016883831.1:n.*1815A>G | |
| NM_000219.6:c.*1815A>G MANE Select | NP_000210.2:n.*1815A>G | |
| NM_001127669.4:c.*1815A>G | NP_001121141.1:n.*1815A>G | |
| NM_001127668.4:c.*1815A>G | NP_001121140.1:n.*1815A>G | |
| NM_001127670.4:c.*1815A>G | NP_001121142.1:n.*1815A>G | |
| NM_001270402.3:c.*1815A>G | NP_001257331.1:n.*1815A>G | |
| NM_001270404.3:c.*1815A>G | NP_001257333.1:n.*1815A>G | |
| NM_001270405.3:c.*1815A>G | NP_001257334.1:n.*1815A>G |