Linked Data
ClinVar Variation Id:
373938
dbSNP Id:
rs1057518784
gnomAD v2:
19-55667657-G-A
gnomAD v4:
19-55156289-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55156289G>A , CM000681.2:g.55156289G>A | GRCh38 |
| NC_000019.9:g.55667657G>A , CM000681.1:g.55667657G>A | GRCh37 |
| NC_000019.8:g.60359469G>A | NCBI36 |
| NG_007866.2:g.6444C>T , LRG_432:g.6444C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.194C>T MANE Select | ENSP00000341838.5:p.Ala65Val | |
| ENST00000665070.1:c.194C>T | ENSP00000499482.1:p.Ala65Val | |
| ENST00000344887.9:c.194C>T | ENSP00000341838.5:p.Ala65Val | |
| ENST00000585806.5:n.193C>T | ||
| ENST00000586669.5:n.202C>T | ||
| ENST00000586858.1:c.157C>T | ENSP00000465258.1:p.Arg53Trp | |
| ENST00000587176.5:n.378C>T | ||
| ENST00000587871.1:c.813C>T | ||
| ENST00000588882.1:c.119C>T | ENSP00000466729.1:p.Ala40Val | |
| ENST00000590463.1:n.366C>T | ||
| NM_000363.4:c.194C>T , LRG_432t1:c.194C>T | NP_000354.4:p.Ala65Val | |
| NM_000363.5:c.194C>T MANE Select | NP_000354.4:p.Ala65Val |