Linked Data
ClinVar Variation Id:
471361
dbSNP Id:
rs1347662650
gnomAD v4:
21-43068541-A-G
MyVariant Identifiers:
chr21:g.43068541A>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43068541A>G , CM000683.2:g.43068541A>G | GRCh38 |
| NG_008938.1:g.12390T>C , LRG_777:g.12390T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398165.8:c.284T>C MANE Select | ENSP00000381231.4:p.Ile95Thr | |
| ENST00000352178.9:c.284T>C | ENSP00000344460.5:p.Ile95Thr | |
| ENST00000359624.7:c.284T>C | ENSP00000352643.3:p.Ile95Thr | |
| ENST00000398158.5:c.284T>C | ENSP00000381225.1:p.Ile95Thr | |
| ENST00000398165.7:c.284T>C | ENSP00000381231.3:p.Ile95Thr | |
| ENST00000441030.5:c.284T>C | ENSP00000388235.1:p.Ile95Thr | |
| ENST00000465732.5:n.463T>C | ||
| ENST00000470912.5:n.544T>C | ||
| ENST00000488526.1:n.535T>C | ||
| NM_000071.2:c.284T>C , LRG_777t1:c.284T>C | NP_000062.1:p.Ile95Thr | |
| NM_001178008.1:c.284T>C | NP_001171479.1:p.Ile95Thr | |
| NM_001178009.1:c.284T>C | NP_001171480.1:p.Ile95Thr | |
| XM_011529777.1:c.284T>C | XP_011528079.1:p.Ile95Thr | |
| XM_011529778.1:c.284T>C | XP_011528080.1:p.Ile95Thr | |
| XM_011529779.1:c.284T>C | XP_011528081.1:p.Ile95Thr | |
| XM_011529781.1:c.284T>C | XP_011528083.1:p.Ile95Thr | |
| XM_011529782.1:c.284T>C | XP_011528084.1:p.Ile95Thr | |
| NM_001178008.2:c.284T>C | NP_001171479.1:p.Ile95Thr | |
| NM_001178009.2:c.284T>C | NP_001171480.1:p.Ile95Thr | |
| NM_001320298.1:c.284T>C | NP_001307227.1:p.Ile95Thr | |
| XM_011529777.2:c.284T>C | XP_011528079.1:p.Ile95Thr | |
| XM_017028491.2:c.284T>C | XP_016883980.1:p.Ile95Thr | |
| XM_024452136.1:c.-485T>C | XP_024307904.1:n.-485T>C | |
| XM_024452137.1:c.-485T>C | XP_024307905.1:n.-485T>C | |
| XM_024452138.1:c.-763T>C | XP_024307906.1:n.-763T>C | |
| XM_024452139.1:c.-763T>C | XP_024307907.1:n.-763T>C | |
| XM_024452140.1:c.-763T>C | XP_024307908.1:n.-763T>C | |
| XR_001754916.2:n.434T>C | ||
| XR_001754917.2:n.434T>C | ||
| XR_002958634.1:n.434T>C | ||
| NM_000071.3:c.284T>C MANE Select | NP_000062.1:p.Ile95Thr | |
| NM_001178009.3:c.284T>C | NP_001171480.1:p.Ile95Thr | |
| NM_001178008.3:c.284T>C | NP_001171479.1:p.Ile95Thr | |
| NM_001320298.2:c.284T>C | NP_001307227.1:p.Ile95Thr |