Linked Data
ClinVar Variation Id:
12428
ClinVar RCV Id:
RCV000013241
dbSNP Id:
rs121917760
PubMed:
PMID:12531876
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154148A>T , CM000681.2:g.55154148A>T | GRCh38 |
| NC_000019.9:g.55665516A>T , CM000681.1:g.55665516A>T | GRCh37 |
| NC_000019.8:g.60357328A>T | NCBI36 |
| NG_007866.2:g.8585T>A , LRG_432:g.8585T>A | |
| NG_011829.2:g.91T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.431T>A MANE Select | ENSP00000341838.5:p.Leu144Gln | |
| ENST00000665070.1:c.464T>A | ENSP00000499482.1:p.Leu155Gln | |
| ENST00000344887.9:c.431T>A | ENSP00000341838.5:p.Leu144Gln | |
| ENST00000585806.5:n.430T>A | ||
| ENST00000586669.5:n.439T>A | ||
| ENST00000588882.1:c.356T>A | ENSP00000466729.1:p.Leu119Gln | |
| ENST00000589864.1:n.259T>A | ||
| NM_000363.4:c.431T>A , LRG_432t1:c.431T>A | NP_000354.4:p.Leu144Gln | |
| NM_000363.5:c.431T>A MANE Select | NP_000354.4:p.Leu144Gln |