Linked Data
ClinVar Variation Id:
449314
dbSNP Id:
rs747522089
ExAC:
19:55666188 C / T
gnomAD v2:
19-55666188-C-T
gnomAD v3:
19-55154820-C-T
gnomAD v4:
19-55154820-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154820C>T , CM000681.2:g.55154820C>T | GRCh38 |
| NC_000019.9:g.55666188C>T , CM000681.1:g.55666188C>T | GRCh37 |
| NC_000019.8:g.60358000C>T | NCBI36 |
| NG_007866.2:g.7913G>A , LRG_432:g.7913G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.293G>A MANE Select | ENSP00000341838.5:p.Arg98Gln | |
| ENST00000665070.1:c.293G>A | ENSP00000499482.1:p.Arg98Gln | |
| ENST00000344887.9:c.293G>A | ENSP00000341838.5:p.Arg98Gln | |
| ENST00000585806.5:n.292G>A | ||
| ENST00000586669.5:n.301G>A | ||
| ENST00000587176.5:n.477G>A | ||
| ENST00000587871.1:c.912G>A | ||
| ENST00000588882.1:c.218G>A | ENSP00000466729.1:p.Arg73Gln | |
| ENST00000590463.1:n.465G>A | ||
| NM_000363.4:c.293G>A , LRG_432t1:c.293G>A | NP_000354.4:p.Arg98Gln | |
| NM_000363.5:c.293G>A MANE Select | NP_000354.4:p.Arg98Gln |