Linked Data
ClinVar Variation Id:
339753
dbSNP Id:
rs41314803
MyVariant Identifiers:
chr21:g.34448177T>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34448177T>G , CM000683.2:g.34448177T>G | GRCh38 |
| NG_009091.1:g.68139A>C , LRG_290:g.68139A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399286.3:c.*1068A>C MANE Select | ENSP00000382226.2:n.*1068A>C | |
| ENST00000337385.7:c.*1068A>C | ENSP00000337255.3:n.*1068A>C | |
| ENST00000399289.7:c.*1068A>C | ENSP00000382228.3:n.*1068A>C | |
| ENST00000432085.5:c.*1068A>C | ENSP00000412498.1:n.*1068A>C | |
| ENST00000611936.1:c.*1068A>C | ENSP00000478215.1:n.*1068A>C | |
| ENST00000621601.4:c.*1068A>C | ENSP00000483895.1:n.*1068A>C | |
| NM_000219.5:c.*1068A>C | NP_000210.2:n.*1068A>C | |
| NM_001127668.3:c.*1068A>C | NP_001121140.1:n.*1068A>C | |
| NM_001127669.3:c.*1068A>C | NP_001121141.1:n.*1068A>C | |
| NM_001127670.3:c.*1068A>C | NP_001121142.1:n.*1068A>C | |
| NM_001270402.2:c.*1068A>C | NP_001257331.1:n.*1068A>C | |
| NM_001270403.2:c.*1068A>C | NP_001257332.1:n.*1068A>C | |
| NM_001270404.2:c.*1068A>C | NP_001257333.1:n.*1068A>C | |
| NM_001270405.2:c.*1068A>C | NP_001257334.1:n.*1068A>C | |
| XM_011529555.1:c.13+7209A>C | XP_011527857.1:n.13+7209A>C | |
| XM_011529557.1:c.279+10477A>C | XP_011527859.1:n.279+10477A>C | |
| XM_017028342.1:c.*1068A>C | XP_016883831.1:n.*1068A>C | |
| NM_000219.6:c.*1068A>C MANE Select | NP_000210.2:n.*1068A>C | |
| NM_001127669.4:c.*1068A>C | NP_001121141.1:n.*1068A>C | |
| NM_001127668.4:c.*1068A>C | NP_001121140.1:n.*1068A>C | |
| NM_001127670.4:c.*1068A>C | NP_001121142.1:n.*1068A>C | |
| NM_001270402.3:c.*1068A>C | NP_001257331.1:n.*1068A>C | |
| NM_001270404.3:c.*1068A>C | NP_001257333.1:n.*1068A>C | |
| NM_001270405.3:c.*1068A>C | NP_001257334.1:n.*1068A>C |