Linked Data
dbSNP Id:
rs759746188
ExAC:
2:128050248 T / C
gnomAD v2:
2-128050248-T-C
gnomAD v4:
2-127292672-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127292672T>C , CM000664.2:g.127292672T>C | GRCh38 |
| NC_000002.11:g.128050248T>C , CM000664.1:g.128050248T>C | GRCh37 |
| NC_000002.10:g.127766718T>C | NCBI36 |
| NG_007454.1:g.6505A>G , LRG_462:g.6505A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285398.7:c.409A>G MANE Select | ENSP00000285398.2:p.Thr137Ala | |
| ENST00000642308.1:c.409A>G | ENSP00000496684.1:p.Thr137Ala | |
| ENST00000644317.1:c.267A>G | ENSP00000494012.1:p.Ser89= | |
| ENST00000645233.1:c.409A>G | ENSP00000494116.1:p.Thr137Ala | |
| ENST00000645467.1:c.409A>G | ENSP00000494889.1:p.Thr137Ala | |
| ENST00000645736.1:c.265A>G | ENSP00000494545.1:p.Thr89Ala | |
| ENST00000646654.1:c.409A>G | ENSP00000494526.1:p.Thr137Ala | |
| ENST00000647169.1:c.409A>G | ENSP00000495619.1:p.Thr137Ala | |
| ENST00000285398.6:c.409A>G | ENSP00000285398.2:p.Thr137Ala | |
| ENST00000426778.5:c.*390A>G | ENSP00000415335.1:n.*390A>G | |
| ENST00000445889.5:c.*452A>G | ENSP00000390888.1:n.*452A>G | |
| ENST00000462306.5:n.323A>G | ||
| ENST00000490062.1:n.339A>G | ||
| ENST00000494464.5:n.293A>G | ||
| NM_000122.1:c.409A>G , LRG_462t1:c.409A>G | NP_000113.1:p.Thr137Ala | |
| NM_001303416.1:c.217A>G | NP_001290345.1:p.Thr73Ala | |
| NM_001303418.1:c.217A>G | NP_001290347.1:p.Thr73Ala | |
| XM_011510794.1:c.409A>G | XP_011509096.1:p.Thr137Ala | |
| XM_011510795.1:c.-48A>G | XP_011509097.1:n.-48A>G | |
| XM_011510794.2:c.409A>G | XP_011509096.1:p.Thr137Ala | |
| XM_017003583.1:c.-48A>G | XP_016859072.1:n.-48A>G | |
| NM_000122.2:c.409A>G MANE Select | NP_000113.1:p.Thr137Ala | |
| NM_001303416.2:c.217A>G | NP_001290345.1:p.Thr73Ala | |
| NM_001303418.2:c.217A>G | NP_001290347.1:p.Thr73Ala |