Linked Data
ClinVar Variation Id:
372239
ClinVar RCV Id:
RCV000412520
dbSNP Id:
rs1057518748
PubMed:
PMID:26168012
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.110761530A>T , CM000667.2:g.110761530A>T | GRCh38 |
| NC_000005.9:g.110097230A>T , CM000667.1:g.110097230A>T | GRCh37 |
| NC_000005.8:g.110125129A>T | NCBI36 |
| NG_051334.1:g.28395A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355943.8:c.1005A>T MANE Select | ENSP00000348211.3:p.Glu335Asp | |
| ENST00000355943.7:c.1005A>T | ENSP00000348211.3:p.Glu335Asp | |
| ENST00000447245.6:c.762A>T | ENSP00000399717.2:p.Glu254Asp | |
| ENST00000502462.6:n.1321A>T | ||
| ENST00000504098.1:c.567A>T | ENSP00000425708.1:p.Glu189Asp | |
| ENST00000509432.1:c.366A>T | ENSP00000426604.1:p.Glu122Asp | |
| ENST00000513706.2:n.2605A>T | ||
| ENST00000513807.5:c.519A>T | ENSP00000421134.1:p.Glu173Asp | |
| NM_001303249.1:c.762A>T | NP_001290178.1:p.Glu254Asp | |
| NM_001303250.1:c.732A>T | NP_001290179.1:p.Glu244Asp | |
| NM_138773.2:c.1005A>T | NP_620128.1:p.Glu335Asp | |
| NM_001303249.2:c.762A>T | NP_001290178.1:p.Glu254Asp | |
| NM_001303250.2:c.732A>T | NP_001290179.1:p.Glu244Asp | |
| NM_138773.3:c.1005A>T | NP_620128.1:p.Glu335Asp | |
| NR_138151.1:n.1279A>T | ||
| NM_138773.4:c.1005A>T MANE Select | NP_620128.1:p.Glu335Asp | |
| NM_001303249.3:c.762A>T | NP_001290178.1:p.Glu254Asp | |
| NM_001303250.3:c.732A>T | NP_001290179.1:p.Glu244Asp | |
| NR_138151.2:n.1244A>T |