Linked Data
ClinVar Variation Id:
375563
ClinVar RCV Id:
RCV000417045
dbSNP Id:
rs1057519569
PubMed:
PMID:28041644
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.107222767C>T , CM000685.2:g.107222767C>T | GRCh38 |
| NC_000023.10:g.106465997C>T , CM000685.1:g.106465997C>T | GRCh37 |
| NC_000023.9:g.106352653C>T | NCBI36 |
| NG_016377.1:g.21136C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000535523.6:c.355C>T | ENSP00000441930.1:p.Gln119Ter | |
| ENST00000688816.1:c.332+3798C>T | ENSP00000508655.1:n.332+3798C>T | |
| ENST00000372453.8:c.355C>T MANE Select | ENSP00000361531.3:p.Gln119Ter | |
| ENST00000336387.4:c.355C>T | ENSP00000337757.4:p.Gln119Ter | |
| ENST00000372453.7:c.355C>T | ENSP00000361531.3:p.Gln119Ter | |
| ENST00000535523.5:c.355C>T | ENSP00000441930.1:p.Gln119Ter | |
| NM_001169154.1:c.355C>T | NP_001162625.1:p.Gln119Ter | |
| NM_173494.1:c.355C>T | NP_775765.1:p.Gln119Ter | |
| XM_011530855.1:c.355C>T | XP_011529157.1:p.Gln119Ter | |
| XM_011530855.2:c.355C>T | XP_011529157.1:p.Gln119Ter | |
| NM_173494.2:c.355C>T MANE Select | NP_775765.1:p.Gln119Ter | |
| NM_001169154.2:c.355C>T | NP_001162625.1:p.Gln119Ter |