Linked Data
ClinVar Variation Id:
265515
dbSNP Id:
rs34295337
ExAC:
2:128050332 G / A
gnomAD v2:
2-128050332-G-A
gnomAD v3:
2-127292756-G-A
gnomAD v4:
2-127292756-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127292756G>A , CM000664.2:g.127292756G>A | GRCh38 |
| NC_000002.11:g.128050332G>A , CM000664.1:g.128050332G>A | GRCh37 |
| NC_000002.10:g.127766802G>A | NCBI36 |
| NG_007454.1:g.6421C>T , LRG_462:g.6421C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285398.7:c.325C>T MANE Select | ENSP00000285398.2:p.Arg109Ter | |
| ENST00000642308.1:c.325C>T | ENSP00000496684.1:p.Arg109Ter | |
| ENST00000644317.1:c.235-52C>T | ENSP00000494012.1:n.235-52C>T | |
| ENST00000645233.1:c.325C>T | ENSP00000494116.1:p.Arg109Ter | |
| ENST00000645467.1:c.325C>T | ENSP00000494889.1:p.Arg109Ter | |
| ENST00000645736.1:c.181C>T | ENSP00000494545.1:p.Arg61Ter | |
| ENST00000646654.1:c.325C>T | ENSP00000494526.1:p.Arg109Ter | |
| ENST00000647169.1:c.325C>T | ENSP00000495619.1:p.Arg109Ter | |
| ENST00000285398.6:c.325C>T | ENSP00000285398.2:p.Arg109Ter | |
| ENST00000426778.5:c.*306C>T | ENSP00000415335.1:n.*306C>T | |
| ENST00000445889.5:c.*368C>T | ENSP00000390888.1:n.*368C>T | |
| ENST00000462306.5:n.291-52C>T | ||
| ENST00000490062.1:n.307-52C>T | ||
| ENST00000494464.5:n.261-52C>T | ||
| NM_000122.1:c.325C>T , LRG_462t1:c.325C>T | NP_000113.1:p.Arg109Ter | |
| NM_001303416.1:c.133C>T | NP_001290345.1:p.Arg45Ter | |
| NM_001303418.1:c.133C>T | NP_001290347.1:p.Arg45Ter | |
| XM_011510794.1:c.325C>T | XP_011509096.1:p.Arg109Ter | |
| XM_011510795.1:c.-80-52C>T | XP_011509097.1:n.-80-52C>T | |
| XM_011510794.2:c.325C>T | XP_011509096.1:p.Arg109Ter | |
| XM_017003583.1:c.-80-52C>T | XP_016859072.1:n.-80-52C>T | |
| NM_000122.2:c.325C>T MANE Select | NP_000113.1:p.Arg109Ter | |
| NM_001303416.2:c.133C>T | NP_001290345.1:p.Arg45Ter | |
| NM_001303418.2:c.133C>T | NP_001290347.1:p.Arg45Ter |