Linked Data
ClinVar Variation Id:
339775
dbSNP Id:
rs145416040
MyVariant Identifiers:
chr21:g.34458685A>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34458685A>C , CM000683.2:g.34458685A>C | GRCh38 |
| NG_009091.1:g.57631T>G , LRG_290:g.57631T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000399286.3:c.-82T>G MANE Select | ENSP00000382226.2:n.-82T>G | |
| ENST00000337385.7:c.-82T>G | ENSP00000337255.3:n.-82T>G | |
| ENST00000399284.1:c.-82T>G | ENSP00000382225.1:n.-82T>G | |
| ENST00000399286.2:c.-82T>G | ENSP00000382226.2:n.-82T>G | |
| ENST00000399289.7:c.-82T>G | ENSP00000382228.3:n.-82T>G | |
| ENST00000432085.5:c.-82T>G | ENSP00000412498.1:n.-82T>G | |
| ENST00000611936.1:c.-50-9001T>G | ENSP00000478215.1:n.-50-9001T>G | |
| ENST00000621601.4:c.-82T>G | ENSP00000483895.1:n.-82T>G | |
| NM_000219.5:c.-82T>G | NP_000210.2:n.-82T>G | |
| NM_001127668.3:c.-82T>G | NP_001121140.1:n.-82T>G | |
| NM_001127669.3:c.-82T>G | NP_001121141.1:n.-82T>G | |
| NM_001270402.2:c.-82T>G | NP_001257331.1:n.-82T>G | |
| NM_001270403.2:c.-82T>G | NP_001257332.1:n.-82T>G | |
| NM_001270404.2:c.-50-9001T>G | NP_001257333.1:n.-50-9001T>G | |
| NM_001270405.2:c.-82T>G | NP_001257334.1:n.-82T>G | |
| XM_011529557.1:c.248T>G | XP_011527859.1:p.Leu83Arg | |
| NM_000219.6:c.-82T>G MANE Select | NP_000210.2:n.-82T>G | |
| NM_001127669.4:c.-82T>G | NP_001121141.1:n.-82T>G | |
| NM_001127668.4:c.-82T>G | NP_001121140.1:n.-82T>G | |
| NM_001270402.3:c.-82T>G | NP_001257331.1:n.-82T>G | |
| NM_001270404.3:c.-50-9001T>G | NP_001257333.1:n.-50-9001T>G | |
| NM_001270405.3:c.-82T>G | NP_001257334.1:n.-82T>G |