Linked Data
ClinVar Variation Id:
236512
dbSNP Id:
rs878853394
gnomAD v4:
16-57964158-G-A
PubMed:
PMID:28041643
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.57964158G>A , CM000678.2:g.57964158G>A | GRCh38 |
| NC_000016.9:g.57998062G>A , CM000678.1:g.57998062G>A | GRCh37 |
| NC_000016.8:g.56555563G>A | NCBI36 |
| NG_016351.1:g.11959C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251102.13:c.262C>T MANE Select | ENSP00000251102.8:p.Gln88Ter | |
| ENST00000251102.12:c.262C>T | ENSP00000251102.8:p.Gln88Ter | |
| ENST00000311183.8:c.262C>T | ENSP00000311670.4:p.Gln88Ter | |
| ENST00000562761.1:c.262C>T | ENSP00000455708.1:p.Gln88Ter | |
| ENST00000564448.5:c.262C>T | ENSP00000454633.1:p.Gln88Ter | |
| ENST00000567568.1:n.320C>T | ||
| NM_001135639.1:c.262C>T | NP_001129111.1:p.Gln88Ter | |
| NM_001286130.1:c.262C>T | NP_001273059.1:p.Gln88Ter | |
| NM_001297.4:c.262C>T | NP_001288.3:p.Gln88Ter | |
| XM_006721134.2:c.262C>T | XP_006721197.1:p.Gln88Ter | |
| NM_001135639.2:c.262C>T | NP_001129111.1:p.Gln88Ter | |
| NM_001286130.2:c.262C>T | NP_001273059.1:p.Gln88Ter | |
| NM_001297.5:c.262C>T MANE Select | NP_001288.3:p.Gln88Ter |