Linked Data
ClinVar Variation Id:
31119
ClinVar RCV Id:
RCV000024115
dbSNP Id:
rs387907114
PubMed:
PMID:21765411
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46995743A>T , CM000665.2:g.46995743A>T | GRCh38 |
| NC_000003.11:g.47037233A>T , CM000665.1:g.47037233A>T | GRCh37 |
| NC_000003.10:g.47012237A>T | NCBI36 |
| NG_031914.1:g.21061A>T , LRG_568:g.21061A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000450053.8:c.1928A>T MANE Select | ENSP00000415034.2:p.Glu643Val | |
| ENST00000651747.1:c.1826A>T | ENSP00000499216.1:p.Glu609Val | |
| ENST00000416683.5:c.343A>T | ||
| ENST00000450053.7:c.1928A>T | ENSP00000415034.2:p.Glu643Val | |
| NM_015175.2:c.1928A>T , LRG_568t1:c.1928A>T | NP_055990.1:p.Glu643Val | |
| XM_005264992.2:c.1826A>T | XP_005265049.1:p.Glu609Val | |
| XM_006713072.2:c.1847A>T | XP_006713135.1:p.Glu616Val | |
| XM_011533532.1:c.1907A>T | XP_011531834.1:p.Glu636Val | |
| XM_011533533.1:c.1928A>T | XP_011531835.1:p.Glu643Val | |
| XM_011533534.1:c.1559A>T | XP_011531836.1:p.Glu520Val | |
| XM_011533535.1:c.1388A>T | XP_011531837.1:p.Glu463Val | |
| XM_011533536.1:c.1274A>T | XP_011531838.1:p.Glu425Val | |
| XM_011533537.1:c.836A>T | XP_011531839.1:p.Glu279Val | |
| XR_940397.1:n.2104A>T | ||
| XR_940398.1:n.2104A>T | ||
| NM_001365116.1:c.1826A>T | NP_001352045.1:p.Glu609Val | |
| XM_006713072.3:c.1847A>T | XP_006713135.1:p.Glu616Val | |
| XM_011533533.2:c.1928A>T | XP_011531835.1:p.Glu643Val | |
| XM_017006010.1:c.1928A>T | XP_016861499.1:p.Glu643Val | |
| XM_017006011.1:c.1907A>T | XP_016861500.1:p.Glu636Val | |
| XM_017006012.1:c.1847A>T | XP_016861501.1:p.Glu616Val | |
| XM_017006013.1:c.1928A>T | XP_016861502.1:p.Glu643Val | |
| XM_017006014.1:c.1826A>T | XP_016861503.1:p.Glu609Val | |
| XM_017006015.1:c.1559A>T | XP_016861504.1:p.Glu520Val | |
| XM_017006016.1:c.1388A>T | XP_016861505.1:p.Glu463Val | |
| XR_940397.2:n.2104A>T | ||
| NM_001365116.2:c.1826A>T | NP_001352045.1:p.Glu609Val | |
| NM_015175.3:c.1928A>T MANE Select | NP_055990.1:p.Glu643Val |