Linked Data
ClinVar Variation Id:
1458593
dbSNP Id:
rs763315862
ExAC:
2:128016958 G / A
gnomAD v2:
2-128016958-G-A
gnomAD v3:
2-127259382-G-A
gnomAD v4:
2-127259382-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127259382G>A , CM000664.2:g.127259382G>A | GRCh38 |
| NC_000002.11:g.128016958G>A , CM000664.1:g.128016958G>A | GRCh37 |
| NC_000002.10:g.127733428G>A | NCBI36 |
| NG_007454.1:g.39795C>T , LRG_462:g.39795C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285398.7:c.2131C>T MANE Select | ENSP00000285398.2:p.Gln711Ter | |
| ENST00000644317.1:c.*1620C>T | ENSP00000494012.1:n.*1620C>T | |
| ENST00000645233.1:c.*2343C>T | ENSP00000494116.1:n.*2343C>T | |
| ENST00000645467.1:c.*903C>T | ENSP00000494889.1:n.*903C>T | |
| ENST00000645736.1:c.1802C>T | ENSP00000494545.1:n.1802C>T | |
| ENST00000646042.1:n.2866C>T | ||
| ENST00000646654.1:c.*1598C>T | ENSP00000494526.1:n.*1598C>T | |
| ENST00000647169.1:c.2206C>T | ENSP00000495619.1:p.Gln736Ter | |
| ENST00000647496.1:c.396-1780C>T | ||
| ENST00000285398.6:c.2131C>T | ENSP00000285398.2:p.Gln711Ter | |
| ENST00000426778.5:c.*2112C>T | ENSP00000415335.1:n.*2112C>T | |
| ENST00000445889.5:c.*2174C>T | ENSP00000390888.1:n.*2174C>T | |
| ENST00000491292.5:n.3501C>T | ||
| NM_000122.1:c.2131C>T , LRG_462t1:c.2131C>T | NP_000113.1:p.Gln711Ter | |
| NM_001303416.1:c.1939C>T | NP_001290345.1:p.Gln647Ter | |
| NM_001303418.1:c.1939C>T | NP_001290347.1:p.Gln647Ter | |
| XM_011510794.1:c.2149C>T | XP_011509096.1:p.Gln717Ter | |
| XM_011510795.1:c.1693C>T | XP_011509097.1:p.Gln565Ter | |
| XM_011510794.2:c.2149C>T | XP_011509096.1:p.Gln717Ter | |
| XM_017003583.1:c.1675C>T | XP_016859072.1:p.Gln559Ter | |
| NM_000122.2:c.2131C>T MANE Select | NP_000113.1:p.Gln711Ter | |
| NM_001303416.2:c.1939C>T | NP_001290345.1:p.Gln647Ter | |
| NM_001303418.2:c.1939C>T | NP_001290347.1:p.Gln647Ter |