Linked Data
ClinVar Variation Id:
228018
dbSNP Id:
rs559450042
ExAC:
19:55666145 G / A
gnomAD v2:
19-55666145-G-A
gnomAD v3:
19-55154777-G-A
gnomAD v4:
19-55154777-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154777G>A , CM000681.2:g.55154777G>A | GRCh38 |
| NC_000019.9:g.55666145G>A , CM000681.1:g.55666145G>A | GRCh37 |
| NC_000019.8:g.60357957G>A | NCBI36 |
| NG_007866.2:g.7956C>T , LRG_432:g.7956C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.336C>T MANE Select | ENSP00000341838.5:p.Tyr112= | |
| ENST00000665070.1:c.336C>T | ENSP00000499482.1:p.Tyr112= | |
| ENST00000344887.9:c.336C>T | ENSP00000341838.5:p.Tyr112= | |
| ENST00000585806.5:n.335C>T | ||
| ENST00000586669.5:n.344C>T | ||
| ENST00000587176.5:n.520C>T | ||
| ENST00000587871.1:c.955C>T | ||
| ENST00000588882.1:c.261C>T | ENSP00000466729.1:p.Tyr87= | |
| ENST00000590463.1:n.508C>T | ||
| NM_000363.4:c.336C>T , LRG_432t1:c.336C>T | NP_000354.4:p.Tyr112= | |
| NM_000363.5:c.336C>T MANE Select | NP_000354.4:p.Tyr112= |