Linked Data
ClinVar Variation Id:
331080
dbSNP Id:
rs769083884
ExAC:
2:128038179 G / A
gnomAD v2:
2-128038179-G-A
gnomAD v3:
2-127280603-G-A
gnomAD v4:
2-127280603-G-A
COSMIC:
COSM4465209
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127280603G>A , CM000664.2:g.127280603G>A | GRCh38 |
| NC_000002.11:g.128038179G>A , CM000664.1:g.128038179G>A | GRCh37 |
| NC_000002.10:g.127754649G>A | NCBI36 |
| NG_007454.1:g.18574C>T , LRG_462:g.18574C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285398.7:c.1371C>T MANE Select | ENSP00000285398.2:p.Ile457= | |
| ENST00000644317.1:c.*860C>T | ENSP00000494012.1:n.*860C>T | |
| ENST00000645233.1:c.*1583C>T | ENSP00000494116.1:n.*1583C>T | |
| ENST00000645467.1:c.*143C>T | ENSP00000494889.1:n.*143C>T | |
| ENST00000645504.1:c.124C>T | ||
| ENST00000645736.1:c.1199-1228C>T | ENSP00000494545.1:n.1199-1228C>T | |
| ENST00000646042.1:n.2106C>T | ||
| ENST00000646654.1:c.*838C>T | ENSP00000494526.1:n.*838C>T | |
| ENST00000647169.1:c.1446C>T | ENSP00000495619.1:p.Ile482= | |
| ENST00000647496.1:c.395+8734C>T | ||
| ENST00000285398.6:c.1371C>T | ENSP00000285398.2:p.Ile457= | |
| ENST00000426778.5:c.*1352C>T | ENSP00000415335.1:n.*1352C>T | |
| ENST00000445889.5:c.*1414C>T | ENSP00000390888.1:n.*1414C>T | |
| NM_000122.1:c.1371C>T , LRG_462t1:c.1371C>T | NP_000113.1:p.Ile457= | |
| NM_001303416.1:c.1179C>T | NP_001290345.1:p.Ile393= | |
| NM_001303418.1:c.1179C>T | NP_001290347.1:p.Ile393= | |
| XM_011510794.1:c.1389C>T | XP_011509096.1:p.Ile463= | |
| XM_011510795.1:c.933C>T | XP_011509097.1:p.Ile311= | |
| XM_011510794.2:c.1389C>T | XP_011509096.1:p.Ile463= | |
| XM_017003583.1:c.915C>T | XP_016859072.1:p.Ile305= | |
| NM_000122.2:c.1371C>T MANE Select | NP_000113.1:p.Ile457= | |
| NM_001303416.2:c.1179C>T | NP_001290345.1:p.Ile393= | |
| NM_001303418.2:c.1179C>T | NP_001290347.1:p.Ile393= |