Linked Data
dbSNP Id:
rs2146452482
gnomAD v4:
21-43094483-C-T
MyVariant Identifiers:
chr21:g.43094483C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43094483C>T , CM000683.2:g.43094483C>T | GRCh38 |
| NG_029455.1:g.18096G>A , LRG_615:g.18096G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291552.9:c.563G>A MANE Select | ENSP00000291552.4:p.Arg188His | |
| ENST00000291552.8:c.563G>A | ENSP00000291552.4:p.Arg188His | |
| ENST00000380276.6:c.563G>A | ENSP00000369629.2:p.Arg188His | |
| ENST00000398137.5:c.344G>A | ENSP00000381205.1:p.Arg115His | |
| ENST00000459639.5:c.344G>A | ENSP00000418705.1:p.Arg115His | |
| ENST00000464750.5:c.*402G>A | ENSP00000420672.1:n.*402G>A | |
| ENST00000471250.5:n.1370G>A | ||
| ENST00000475639.5:n.4388G>A | ||
| ENST00000478282.1:n.1817G>A | ||
| ENST00000486519.5:n.610G>A | ||
| NM_001025203.1:c.563G>A , LRG_615t1:c.563G>A | NP_001020374.1:p.Arg188His | |
| NM_001025204.1:c.344G>A | NP_001020375.1:p.Arg115His | |
| NM_006758.2:c.563G>A , LRG_615t2:c.563G>A | NP_006749.1:p.Arg188His | |
| XM_011529743.1:c.464G>A | XP_011528045.1:p.Arg155His | |
| XM_011529743.3:c.464G>A | XP_011528045.1:p.Arg155His | |
| XM_017028468.2:c.464G>A | XP_016883957.1:p.Arg155His | |
| XM_024452129.1:c.344G>A | XP_024307897.1:p.Arg115His | |
| XM_024452130.1:c.344G>A | XP_024307898.1:p.Arg115His | |
| XM_024452131.1:c.344G>A | XP_024307899.1:p.Arg115His | |
| NM_001025204.2:c.344G>A | NP_001020375.1:p.Arg115His | |
| NM_006758.3:c.563G>A MANE Select | NP_006749.1:p.Arg188His |