Linked Data
ClinVar Variation Id:
181579
dbSNP Id:
rs184709702
gnomAD v2:
19-55666125-G-A
gnomAD v3:
19-55154757-G-A
gnomAD v4:
19-55154757-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154757G>A , CM000681.2:g.55154757G>A | GRCh38 |
| NC_000019.9:g.55666125G>A , CM000681.1:g.55666125G>A | GRCh37 |
| NC_000019.8:g.60357937G>A | NCBI36 |
| NG_007866.2:g.7976C>T , LRG_432:g.7976C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.356C>T MANE Select | ENSP00000341838.5:p.Thr119Ile | |
| ENST00000665070.1:c.356C>T | ENSP00000499482.1:p.Thr119Ile | |
| ENST00000344887.9:c.356C>T | ENSP00000341838.5:p.Thr119Ile | |
| ENST00000585806.5:n.355C>T | ||
| ENST00000586669.5:n.364C>T | ||
| ENST00000587176.5:n.540C>T | ||
| ENST00000587871.1:c.975C>T | ||
| ENST00000588882.1:c.281C>T | ENSP00000466729.1:p.Thr94Ile | |
| ENST00000590463.1:n.528C>T | ||
| NM_000363.4:c.356C>T , LRG_432t1:c.356C>T | NP_000354.4:p.Thr119Ile | |
| NM_000363.5:c.356C>T MANE Select | NP_000354.4:p.Thr119Ile |