Linked Data
ClinVar Variation Id:
408946
ClinVar RCV Id:
RCV000462273
dbSNP Id:
rs771590749
ExAC:
10:75857083 G / A
gnomAD v2:
10-75857083-G-A
gnomAD v3:
10-74097325-G-A
gnomAD v4:
10-74097325-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.74097325G>A , CM000672.2:g.74097325G>A | GRCh38 |
| NC_000010.10:g.75857083G>A , CM000672.1:g.75857083G>A | GRCh37 |
| NC_000010.9:g.75527089G>A | NCBI36 |
| NG_008868.1:g.104212G>A , LRG_383:g.104212G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000211998.10:c.1865G>A MANE Select | ENSP00000211998.5:p.Arg622Lys | |
| ENST00000211998.8:c.1865G>A | ENSP00000211998.4:p.Arg622Lys | |
| ENST00000372755.7:c.1865G>A | ENSP00000361841.3:p.Arg622Lys | |
| ENST00000436396.1:c.881G>A | ENSP00000415489.1:p.Arg294Lys | |
| ENST00000478896.2:n.332-3729G>A | ||
| ENST00000623461.3:n.4668G>A | ||
| ENST00000624354.3:c.*1620G>A | ENSP00000485551.1:n.*1620G>A | |
| NM_003373.3:c.1865G>A | NP_003364.1:p.Arg622Lys | |
| NM_014000.2:c.1865G>A , LRG_383t1:c.1865G>A | NP_054706.1:p.Arg622Lys | |
| XM_005270142.1:c.1868G>A | XP_005270199.1:p.Arg623Lys | |
| XM_005270143.1:c.1868G>A | XP_005270200.1:p.Arg623Lys | |
| NM_003373.4:c.1865G>A | NP_003364.1:p.Arg622Lys | |
| NM_014000.3:c.1865G>A MANE Select | NP_054706.1:p.Arg622Lys |