Linked Data
ClinVar Variation Id:
8729
ClinVar RCV Id:
RCV001851758
dbSNP Id:
rs137852770
gnomAD v3:
2-26204150-G-A
gnomAD v4:
2-26204150-G-A
PubMed:
PMID:7846063
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26204150G>A , CM000664.2:g.26204150G>A | GRCh38 |
| NC_000002.11:g.26427019G>A , CM000664.1:g.26427019G>A | GRCh37 |
| NC_000002.10:g.26280523G>A | NCBI36 |
| NG_007121.1:g.45471C>T | |
| NG_007121.2:g.45472C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380649.8:c.1132C>T MANE Select | ENSP00000370023.3:p.Gln378Ter | |
| ENST00000492433.2:c.1132C>T | ENSP00000438039.2:p.Gln378Ter | |
| ENST00000643057.1:c.*1023C>T | ENSP00000493761.1:n.*1023C>T | |
| ENST00000643063.1:c.*178C>T | ENSP00000495353.1:n.*178C>T | |
| ENST00000643233.1:c.*1023C>T | ENSP00000493880.1:n.*1023C>T | |
| ENST00000644428.1:c.1132C>T | ENSP00000495560.1:p.Gln378Ter | |
| ENST00000645274.1:c.1027C>T | ENSP00000493996.1:p.Gln343Ter | |
| ENST00000646031.1:c.491C>T | ||
| ENST00000646483.1:c.998C>T | ENSP00000496185.1:n.998C>T | |
| ENST00000380649.7:c.1132C>T | ENSP00000370023.3:p.Gln378Ter | |
| NM_000182.4:c.1132C>T | NP_000173.2:p.Gln378Ter | |
| NM_000182.5:c.1132C>T MANE Select | NP_000173.2:p.Gln378Ter |