Linked Data
ClinVar Variation Id:
331093
dbSNP Id:
rs146938627
ExAC:
2:128050378 G / A
gnomAD v2:
2-128050378-G-A
gnomAD v3:
2-127292802-G-A
gnomAD v4:
2-127292802-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127292802G>A , CM000664.2:g.127292802G>A | GRCh38 |
| NC_000002.11:g.128050378G>A , CM000664.1:g.128050378G>A | GRCh37 |
| NC_000002.10:g.127766848G>A | NCBI36 |
| NG_007454.1:g.6375C>T , LRG_462:g.6375C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285398.7:c.279C>T MANE Select | ENSP00000285398.2:p.Tyr93= | |
| ENST00000642308.1:c.279C>T | ENSP00000496684.1:p.Tyr93= | |
| ENST00000644317.1:c.235-98C>T | ENSP00000494012.1:n.235-98C>T | |
| ENST00000645233.1:c.279C>T | ENSP00000494116.1:p.Tyr93= | |
| ENST00000645467.1:c.279C>T | ENSP00000494889.1:p.Tyr93= | |
| ENST00000645736.1:c.135C>T | ENSP00000494545.1:p.Tyr45= | |
| ENST00000646654.1:c.279C>T | ENSP00000494526.1:p.Tyr93= | |
| ENST00000647169.1:c.279C>T | ENSP00000495619.1:p.Tyr93= | |
| ENST00000285398.6:c.279C>T | ENSP00000285398.2:p.Tyr93= | |
| ENST00000426778.5:c.*260C>T | ENSP00000415335.1:n.*260C>T | |
| ENST00000445889.5:c.*322C>T | ENSP00000390888.1:n.*322C>T | |
| ENST00000462306.5:n.291-98C>T | ||
| ENST00000490062.1:n.307-98C>T | ||
| ENST00000494464.5:n.261-98C>T | ||
| NM_000122.1:c.279C>T , LRG_462t1:c.279C>T | NP_000113.1:p.Tyr93= | |
| NM_001303416.1:c.87C>T | NP_001290345.1:p.Tyr29= | |
| NM_001303418.1:c.87C>T | NP_001290347.1:p.Tyr29= | |
| XM_011510794.1:c.279C>T | XP_011509096.1:p.Tyr93= | |
| XM_011510795.1:c.-80-98C>T | XP_011509097.1:n.-80-98C>T | |
| XM_011510794.2:c.279C>T | XP_011509096.1:p.Tyr93= | |
| XM_017003583.1:c.-80-98C>T | XP_016859072.1:n.-80-98C>T | |
| NM_000122.2:c.279C>T MANE Select | NP_000113.1:p.Tyr93= | |
| NM_001303416.2:c.87C>T | NP_001290345.1:p.Tyr29= | |
| NM_001303418.2:c.87C>T | NP_001290347.1:p.Tyr29= |