Linked Data
ClinVar Variation Id:
331086
dbSNP Id:
rs752026166
ExAC:
2:128046237 G / A
gnomAD v2:
2-128046237-G-A
gnomAD v3:
2-127288661-G-A
gnomAD v4:
2-127288661-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127288661G>A , CM000664.2:g.127288661G>A | GRCh38 |
| NC_000002.11:g.128046237G>A , CM000664.1:g.128046237G>A | GRCh37 |
| NC_000002.10:g.127762707G>A | NCBI36 |
| NG_007454.1:g.10516C>T , LRG_462:g.10516C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285398.7:c.1026C>T MANE Select | ENSP00000285398.2:p.Cys342= | |
| ENST00000644317.1:c.*515C>T | ENSP00000494012.1:n.*515C>T | |
| ENST00000645233.1:c.*1238C>T | ENSP00000494116.1:n.*1238C>T | |
| ENST00000645467.1:c.1026C>T | ENSP00000494889.1:p.Cys342= | |
| ENST00000645736.1:c.882C>T | ENSP00000494545.1:p.Cys294= | |
| ENST00000646042.1:n.1761C>T | ||
| ENST00000646654.1:c.*493C>T | ENSP00000494526.1:n.*493C>T | |
| ENST00000647169.1:c.1026C>T | ENSP00000495619.1:p.Cys342= | |
| ENST00000647496.1:c.395+676C>T | ||
| ENST00000285398.6:c.1026C>T | ENSP00000285398.2:p.Cys342= | |
| ENST00000426778.5:c.*1007C>T | ENSP00000415335.1:n.*1007C>T | |
| ENST00000445889.5:c.*1069C>T | ENSP00000390888.1:n.*1069C>T | |
| ENST00000494464.5:n.1097C>T | ||
| NM_000122.1:c.1026C>T , LRG_462t1:c.1026C>T | NP_000113.1:p.Cys342= | |
| NM_001303416.1:c.834C>T | NP_001290345.1:p.Cys278= | |
| NM_001303418.1:c.834C>T | NP_001290347.1:p.Cys278= | |
| XM_011510794.1:c.1044C>T | XP_011509096.1:p.Cys348= | |
| XM_011510795.1:c.588C>T | XP_011509097.1:p.Cys196= | |
| XM_011510794.2:c.1044C>T | XP_011509096.1:p.Cys348= | |
| XM_017003583.1:c.570C>T | XP_016859072.1:p.Cys190= | |
| NM_000122.2:c.1026C>T MANE Select | NP_000113.1:p.Cys342= | |
| NM_001303416.2:c.834C>T | NP_001290345.1:p.Cys278= | |
| NM_001303418.2:c.834C>T | NP_001290347.1:p.Cys278= |