Linked Data
ClinVar Variation Id:
370129
ClinVar RCV Id:
RCV002230213
dbSNP Id:
rs1057516256
MyVariant Identifiers:
chr21:g.43068508C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43068508C>T , CM000683.2:g.43068508C>T | GRCh38 |
| NG_008938.1:g.12423G>A , LRG_777:g.12423G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000398165.8:c.316+1G>A MANE Select | ENSP00000381231.4:n.316+1G>A | |
| ENST00000352178.9:c.316+1G>A | ENSP00000344460.5:n.316+1G>A | |
| ENST00000359624.7:c.316+1G>A | ENSP00000352643.3:n.316+1G>A | |
| ENST00000398158.5:c.316+1G>A | ENSP00000381225.1:n.316+1G>A | |
| ENST00000398165.7:c.316+1G>A | ENSP00000381231.3:n.316+1G>A | |
| ENST00000441030.5:c.316+1G>A | ENSP00000388235.1:n.316+1G>A | |
| ENST00000465732.5:n.496G>A | ||
| ENST00000470912.5:n.576+1G>A | ||
| ENST00000488526.1:n.568G>A | ||
| NM_000071.2:c.316+1G>A , LRG_777t1:c.316+1G>A | NP_000062.1:n.316+1G>A | |
| NM_001178008.1:c.316+1G>A | NP_001171479.1:n.316+1G>A | |
| NM_001178009.1:c.316+1G>A | NP_001171480.1:n.316+1G>A | |
| XM_011529777.1:c.316+1G>A | XP_011528079.1:n.316+1G>A | |
| XM_011529778.1:c.316+1G>A | XP_011528080.1:n.316+1G>A | |
| XM_011529779.1:c.316+1G>A | XP_011528081.1:n.316+1G>A | |
| XM_011529781.1:c.316+1G>A | XP_011528083.1:n.316+1G>A | |
| XM_011529782.1:c.316+1G>A | XP_011528084.1:n.316+1G>A | |
| NM_001178008.2:c.316+1G>A | NP_001171479.1:n.316+1G>A | |
| NM_001178009.2:c.316+1G>A | NP_001171480.1:n.316+1G>A | |
| NM_001320298.1:c.316+1G>A | NP_001307227.1:n.316+1G>A | |
| XM_011529777.2:c.316+1G>A | XP_011528079.1:n.316+1G>A | |
| XM_017028491.2:c.316+1G>A | XP_016883980.1:n.316+1G>A | |
| XM_024452136.1:c.-452G>A | XP_024307904.1:n.-452G>A | |
| XM_024452137.1:c.-452G>A | XP_024307905.1:n.-452G>A | |
| XM_024452138.1:c.-730G>A | XP_024307906.1:n.-730G>A | |
| XM_024452139.1:c.-730G>A | XP_024307907.1:n.-730G>A | |
| XM_024452140.1:c.-730G>A | XP_024307908.1:n.-730G>A | |
| XR_001754916.2:n.466+1G>A | ||
| XR_001754917.2:n.466+1G>A | ||
| XR_002958634.1:n.466+1G>A | ||
| NM_000071.3:c.316+1G>A MANE Select | NP_000062.1:n.316+1G>A | |
| NM_001178009.3:c.316+1G>A | NP_001171480.1:n.316+1G>A | |
| NM_001178008.3:c.316+1G>A | NP_001171479.1:n.316+1G>A | |
| NM_001320298.2:c.316+1G>A | NP_001307227.1:n.316+1G>A |