Linked Data
dbSNP Id:
rs767756140
gnomAD v3:
21-43094609-G-A
gnomAD v4:
21-43094609-G-A
MyVariant Identifiers:
chr21:g.43094609G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43094609G>A , CM000683.2:g.43094609G>A | GRCh38 |
| NG_029455.1:g.17970C>T , LRG_615:g.17970C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291552.9:c.483-46C>T MANE Select | ENSP00000291552.4:n.483-46C>T | |
| ENST00000291552.8:c.483-46C>T | ENSP00000291552.4:n.483-46C>T | |
| ENST00000380276.6:c.483-46C>T | ENSP00000369629.2:n.483-46C>T | |
| ENST00000398137.5:c.264-46C>T | ENSP00000381205.1:n.264-46C>T | |
| ENST00000459639.5:c.264-46C>T | ENSP00000418705.1:n.264-46C>T | |
| ENST00000464750.5:c.*322-46C>T | ENSP00000420672.1:n.*322-46C>T | |
| ENST00000471250.5:n.1290-46C>T | ||
| ENST00000475639.5:n.4308-46C>T | ||
| ENST00000478282.1:n.1737-46C>T | ||
| ENST00000486519.5:n.530-46C>T | ||
| NM_001025203.1:c.483-46C>T , LRG_615t1:c.483-46C>T | NP_001020374.1:n.483-46C>T | |
| NM_001025204.1:c.264-46C>T | NP_001020375.1:n.264-46C>T | |
| NM_006758.2:c.483-46C>T , LRG_615t2:c.483-46C>T | NP_006749.1:n.483-46C>T | |
| XM_011529743.1:c.384-46C>T | XP_011528045.1:n.384-46C>T | |
| XM_011529743.3:c.384-46C>T | XP_011528045.1:n.384-46C>T | |
| XM_017028468.2:c.384-46C>T | XP_016883957.1:n.384-46C>T | |
| XM_024452129.1:c.264-46C>T | XP_024307897.1:n.264-46C>T | |
| XM_024452130.1:c.264-46C>T | XP_024307898.1:n.264-46C>T | |
| XM_024452131.1:c.264-46C>T | XP_024307899.1:n.264-46C>T | |
| NM_001025204.2:c.264-46C>T | NP_001020375.1:n.264-46C>T | |
| NM_006758.3:c.483-46C>T MANE Select | NP_006749.1:n.483-46C>T |