Linked Data
ClinVar Variation Id:
226035
ClinVar RCV Id:
RCV000211438
dbSNP Id:
rs875989852
PubMed:
PMID:27120771
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.54810073A>T , CM000685.2:g.54810073A>T | GRCh38 |
| NC_000023.10:g.54836506A>T , CM000685.1:g.54836506A>T | GRCh37 |
| NC_000023.9:g.54853231A>T | NCBI36 |
| NG_012844.1:g.7336A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375068.6:c.397A>T MANE Select | ENSP00000364209.1:p.Lys133Ter | |
| ENST00000218439.8:c.397A>T | ENSP00000218439.4:p.Lys133Ter | |
| ENST00000347546.8:c.343A>T | ENSP00000336962.4:p.Lys115Ter | |
| ENST00000375053.6:c.397A>T | ENSP00000364193.2:p.Lys133Ter | |
| ENST00000375058.5:c.397A>T | ENSP00000364198.1:p.Lys133Ter | |
| ENST00000375060.5:c.283A>T | ENSP00000364200.1:p.Lys95Ter | |
| ENST00000375068.5:c.397A>T | ENSP00000364209.1:p.Lys133Ter | |
| ENST00000396224.1:c.397A>T | ENSP00000379526.1:p.Lys133Ter | |
| ENST00000463787.5:n.123-45A>T | ||
| ENST00000485483.1:n.632A>T | ||
| ENST00000497484.1:n.540A>T | ||
| ENST00000627068.2:c.283A>T | ENSP00000486563.1:p.Lys95Ter | |
| NM_014599.5:c.397A>T | NP_055414.2:p.Lys133Ter | |
| NM_177433.2:c.397A>T | NP_803182.1:p.Lys133Ter | |
| NM_201222.2:c.397A>T | NP_957516.1:p.Lys133Ter | |
| NM_177433.3:c.397A>T MANE Select | NP_803182.1:p.Lys133Ter | |
| NM_014599.6:c.397A>T | NP_055414.2:p.Lys133Ter | |
| NM_201222.3:c.397A>T | NP_957516.1:p.Lys133Ter |