Linked Data
ClinVar Variation Id:
134123
dbSNP Id:
rs372094432
gnomAD v2:
2-128015218-G-A
gnomAD v3:
2-127257642-G-A
gnomAD v4:
2-127257642-G-A
COSMIC:
COSM5435011
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127257642G>A , CM000664.2:g.127257642G>A | GRCh38 |
| NC_000002.11:g.128015218G>A , CM000664.1:g.128015218G>A | GRCh37 |
| NC_000002.10:g.127731688G>A | NCBI36 |
| NG_007454.1:g.41535C>T , LRG_462:g.41535C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285398.7:c.2303C>T MANE Select | ENSP00000285398.2:p.Ala768Val | |
| ENST00000644317.1:c.*1792C>T | ENSP00000494012.1:n.*1792C>T | |
| ENST00000645233.1:c.*2515C>T | ENSP00000494116.1:n.*2515C>T | |
| ENST00000645467.1:c.*1075C>T | ENSP00000494889.1:n.*1075C>T | |
| ENST00000645736.1:c.1974C>T | ENSP00000494545.1:n.1974C>T | |
| ENST00000646042.1:n.3038C>T | ||
| ENST00000646654.1:c.*1770C>T | ENSP00000494526.1:n.*1770C>T | |
| ENST00000647169.1:c.2378C>T | ENSP00000495619.1:p.Ala793Val | |
| ENST00000647496.1:c.396-40C>T | ||
| ENST00000285398.6:c.2303C>T | ENSP00000285398.2:p.Ala768Val | |
| ENST00000426778.5:c.*2284C>T | ENSP00000415335.1:n.*2284C>T | |
| ENST00000445889.5:c.*2346C>T | ENSP00000390888.1:n.*2346C>T | |
| ENST00000491292.5:n.3673C>T | ||
| NM_000122.1:c.2303C>T , LRG_462t1:c.2303C>T | NP_000113.1:p.Ala768Val | |
| NM_001303416.1:c.2111C>T | NP_001290345.1:p.Ala704Val | |
| NM_001303418.1:c.2111C>T | NP_001290347.1:p.Ala704Val | |
| XM_011510794.1:c.2321C>T | XP_011509096.1:p.Ala774Val | |
| XM_011510795.1:c.1865C>T | XP_011509097.1:p.Ala622Val | |
| XM_011510794.2:c.2321C>T | XP_011509096.1:p.Ala774Val | |
| XM_017003583.1:c.1847C>T | XP_016859072.1:p.Ala616Val | |
| NM_000122.2:c.2303C>T MANE Select | NP_000113.1:p.Ala768Val | |
| NM_001303416.2:c.2111C>T | NP_001290345.1:p.Ala704Val | |
| NM_001303418.2:c.2111C>T | NP_001290347.1:p.Ala704Val |