Linked Data
ClinVar Variation Id:
16585
dbSNP Id:
rs121913047
ExAC:
2:128044348 G / A
gnomAD v2:
2-128044348-G-A
gnomAD v3:
2-127286772-G-A
gnomAD v4:
2-127286772-G-A
PubMed:
PMID:16947863
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127286772G>A , CM000664.2:g.127286772G>A | GRCh38 |
| NC_000002.11:g.128044348G>A , CM000664.1:g.128044348G>A | GRCh37 |
| NC_000002.10:g.127760818G>A | NCBI36 |
| NG_007454.1:g.12405C>T , LRG_462:g.12405C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285398.7:c.1273C>T MANE Select | ENSP00000285398.2:p.Arg425Ter | |
| ENST00000644317.1:c.*762C>T | ENSP00000494012.1:n.*762C>T | |
| ENST00000645233.1:c.*1485C>T | ENSP00000494116.1:n.*1485C>T | |
| ENST00000645467.1:c.1273C>T | ENSP00000494889.1:p.Arg425Ter | |
| ENST00000645504.1:c.26C>T | ||
| ENST00000645736.1:c.1129C>T | ENSP00000494545.1:p.Arg377Ter | |
| ENST00000646042.1:n.2008C>T | ||
| ENST00000646654.1:c.*740C>T | ENSP00000494526.1:n.*740C>T | |
| ENST00000647169.1:c.1273C>T | ENSP00000495619.1:p.Arg425Ter | |
| ENST00000647496.1:c.395+2565C>T | ||
| ENST00000285398.6:c.1273C>T | ENSP00000285398.2:p.Arg425Ter | |
| ENST00000426778.5:c.*1254C>T | ENSP00000415335.1:n.*1254C>T | |
| ENST00000445889.5:c.*1316C>T | ENSP00000390888.1:n.*1316C>T | |
| ENST00000494464.5:n.1344C>T | ||
| NM_000122.1:c.1273C>T , LRG_462t1:c.1273C>T | NP_000113.1:p.Arg425Ter | |
| NM_001303416.1:c.1081C>T | NP_001290345.1:p.Arg361Ter | |
| NM_001303418.1:c.1081C>T | NP_001290347.1:p.Arg361Ter | |
| XM_011510794.1:c.1291C>T | XP_011509096.1:p.Arg431Ter | |
| XM_011510795.1:c.835C>T | XP_011509097.1:p.Arg279Ter | |
| XM_011510794.2:c.1291C>T | XP_011509096.1:p.Arg431Ter | |
| XM_017003583.1:c.817C>T | XP_016859072.1:p.Arg273Ter | |
| NM_000122.2:c.1273C>T MANE Select | NP_000113.1:p.Arg425Ter | |
| NM_001303416.2:c.1081C>T | NP_001290345.1:p.Arg361Ter | |
| NM_001303418.2:c.1081C>T | NP_001290347.1:p.Arg361Ter |