Linked Data
ClinVar Variation Id:
433006
ClinVar RCV Id:
RCV000497821
dbSNP Id:
rs1553354926
PubMed:
PMID:28686853
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.224404453C>A , CM000663.2:g.224404453C>A | GRCh38 |
| NC_000001.10:g.224592155C>A , CM000663.1:g.224592155C>A | GRCh37 |
| NC_000001.9:g.222658778C>A | NCBI36 |
| NG_047198.1:g.34847G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000443112.7:n.2906G>T | ||
| ENST00000704632.1:c.942G>T | ENSP00000515968.1:n.942G>T | |
| ENST00000704640.1:c.908G>T | ||
| ENST00000414423.9:c.1576G>T MANE Select | ENSP00000408108.4:p.Glu526Ter | |
| ENST00000651911.2:c.1118G>T | ||
| ENST00000678555.1:c.1576G>T | ENSP00000504302.1:p.Glu526Ter | |
| ENST00000678879.1:c.1041G>T | ||
| ENST00000678917.1:c.1276G>T | ENSP00000504428.1:p.Glu426Ter | |
| ENST00000414423.6:c.1276G>T | ENSP00000408108.2:p.Glu426Ter | |
| ENST00000480676.2:c.176G>T | ||
| ENST00000486652.5:c.1352G>T | ENSP00000422758.1:n.1352G>T | |
| NM_001115113.2:c.1228G>T | NP_001108585.2:p.Glu410Ter | |
| NM_025160.6:c.1276G>T | NP_079436.4:p.Glu426Ter | |
| XM_005273273.3:c.1276G>T | XP_005273330.1:p.Glu426Ter | |
| XM_006711817.2:c.1273G>T | XP_006711880.1:p.Glu425Ter | |
| XM_011544280.1:c.1276G>T | XP_011542582.1:p.Glu426Ter | |
| XM_011544281.1:c.646G>T | XP_011542583.1:p.Glu216Ter | |
| XM_011544282.1:c.505G>T | XP_011542584.1:p.Glu169Ter | |
| XM_005273273.5:c.1276G>T | XP_005273330.1:p.Glu426Ter | |
| XM_006711817.4:c.1273G>T | XP_006711880.1:p.Glu425Ter | |
| XM_011544281.2:c.646G>T | XP_011542583.1:p.Glu216Ter | |
| XM_011544282.2:c.505G>T | XP_011542584.1:p.Glu169Ter | |
| XM_017002396.1:c.646G>T | XP_016857885.1:p.Glu216Ter | |
| XR_001737437.2:n.1634G>T | ||
| XR_002957642.1:n.3404G>T | ||
| XR_002957643.1:n.3404G>T | ||
| XR_002957644.1:n.3660G>T | ||
| NM_001115113.3:c.1228G>T | NP_001108585.2:p.Glu410Ter | |
| NM_001379403.1:c.1576G>T MANE Select | NP_001366332.1:p.Glu526Ter | |
| NM_025160.7:c.1276G>T | NP_079436.4:p.Glu426Ter |