Linked Data
ClinVar Variation Id:
636350
ClinVar RCV Id:
RCV000788138
dbSNP Id:
rs1407023193
gnomAD v2:
19-55667575-C-T
gnomAD v3:
19-55156207-C-T
gnomAD v4:
19-55156207-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55156207C>T , CM000681.2:g.55156207C>T | GRCh38 |
| NC_000019.9:g.55667575C>T , CM000681.1:g.55667575C>T | GRCh37 |
| NC_000019.8:g.60359387C>T | NCBI36 |
| NG_007866.2:g.6526G>A , LRG_432:g.6526G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.276G>A MANE Select | ENSP00000341838.5:p.Glu92= | |
| ENST00000665070.1:c.276G>A | ENSP00000499482.1:p.Glu92= | |
| ENST00000344887.9:c.276G>A | ENSP00000341838.5:p.Glu92= | |
| ENST00000585806.5:n.275G>A | ||
| ENST00000586669.5:n.284G>A | ||
| ENST00000587176.5:n.460G>A | ||
| ENST00000587871.1:c.895G>A | ||
| ENST00000588882.1:c.201G>A | ENSP00000466729.1:p.Glu67= | |
| ENST00000590463.1:n.448G>A | ||
| NM_000363.4:c.276G>A , LRG_432t1:c.276G>A | NP_000354.4:p.Glu92= | |
| NM_000363.5:c.276G>A MANE Select | NP_000354.4:p.Glu92= |