Linked Data
ClinVar Variation Id:
132680
ClinVar RCV Id:
RCV000119092
dbSNP Id:
rs199473647
gnomAD v4:
21-34449256-G-T
MyVariant Identifiers:
chr21:g.34449256G>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34449256G>T , CM000683.2:g.34449256G>T | GRCh38 |
| NG_009091.1:g.67060C>A , LRG_290:g.67060C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000399286.3:c.379C>A MANE Select | ENSP00000382226.2:p.Pro127Thr | |
| ENST00000337385.7:c.379C>A | ENSP00000337255.3:p.Pro127Thr | |
| ENST00000399284.1:c.379C>A | ENSP00000382225.1:p.Pro127Thr | |
| ENST00000399286.2:c.379C>A | ENSP00000382226.2:p.Pro127Thr | |
| ENST00000399289.7:c.379C>A | ENSP00000382228.3:p.Pro127Thr | |
| ENST00000416357.6:c.379C>A | ENSP00000416258.2:p.Pro127Thr | |
| ENST00000432085.5:c.379C>A | ENSP00000412498.1:p.Pro127Thr | |
| ENST00000611936.1:c.379C>A | ENSP00000478215.1:p.Pro127Thr | |
| ENST00000621601.4:c.379C>A | ENSP00000483895.1:p.Pro127Thr | |
| NM_000219.5:c.379C>A | NP_000210.2:p.Pro127Thr | |
| NM_001127668.3:c.379C>A | NP_001121140.1:p.Pro127Thr | |
| NM_001127669.3:c.379C>A | NP_001121141.1:p.Pro127Thr | |
| NM_001127670.3:c.379C>A | NP_001121142.1:p.Pro127Thr | |
| NM_001270402.2:c.379C>A | NP_001257331.1:p.Pro127Thr | |
| NM_001270403.2:c.379C>A | NP_001257332.1:p.Pro127Thr | |
| NM_001270404.2:c.379C>A | NP_001257333.1:p.Pro127Thr | |
| NM_001270405.2:c.379C>A | NP_001257334.1:p.Pro127Thr | |
| XM_011529555.1:c.13+6130C>A | XP_011527857.1:n.13+6130C>A | |
| XM_011529557.1:c.279+9398C>A | XP_011527859.1:n.279+9398C>A | |
| XM_017028342.1:c.442C>A | XP_016883831.1:p.Pro148Thr | |
| NM_000219.6:c.379C>A MANE Select | NP_000210.2:p.Pro127Thr | |
| NM_001127669.4:c.379C>A | NP_001121141.1:p.Pro127Thr | |
| NM_001127668.4:c.379C>A | NP_001121140.1:p.Pro127Thr | |
| NM_001127670.4:c.379C>A | NP_001121142.1:p.Pro127Thr | |
| NM_001270402.3:c.379C>A | NP_001257331.1:p.Pro127Thr | |
| NM_001270404.3:c.379C>A | NP_001257333.1:p.Pro127Thr | |
| NM_001270405.3:c.379C>A | NP_001257334.1:p.Pro127Thr |