Linked Data
ClinVar Variation Id:
43372
ClinVar RCV Id:
RCV002433496
dbSNP Id:
rs75491697
ExAC:
19:55667578 C / T
gnomAD v2:
19-55667578-C-T
gnomAD v3:
19-55156210-C-T
gnomAD v4:
19-55156210-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55156210C>T , CM000681.2:g.55156210C>T | GRCh38 |
| NC_000019.9:g.55667578C>T , CM000681.1:g.55667578C>T | GRCh37 |
| NC_000019.8:g.60359390C>T | NCBI36 |
| NG_007866.2:g.6523G>A , LRG_432:g.6523G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000344887.10:c.273G>A MANE Select | ENSP00000341838.5:p.Ala91= | |
| ENST00000665070.1:c.273G>A | ENSP00000499482.1:p.Ala91= | |
| ENST00000344887.9:c.273G>A | ENSP00000341838.5:p.Ala91= | |
| ENST00000585806.5:n.272G>A | ||
| ENST00000586669.5:n.281G>A | ||
| ENST00000587176.5:n.457G>A | ||
| ENST00000587871.1:c.892G>A | ||
| ENST00000588882.1:c.198G>A | ENSP00000466729.1:p.Ala66= | |
| ENST00000590463.1:n.445G>A | ||
| NM_000363.4:c.273G>A , LRG_432t1:c.273G>A | NP_000354.4:p.Ala91= | |
| NM_000363.5:c.273G>A MANE Select | NP_000354.4:p.Ala91= |