ClinVar RCV:
ClinVar Variation:
dbSNP:
Revel Score:
ENST00000218099 (MANE Select)
0.904
ENST00000394090
0.904
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.139537158A>C , CM000685.2:g.139537158A>C | GRCh38 |
| NC_000023.10:g.138619317A>C , CM000685.1:g.138619317A>C | GRCh37 |
| NC_000023.9:g.138446983A>C | NCBI36 |
| NG_007994.1:g.11423A>C , LRG_556:g.11423A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218099.7:c.237A>C MANE Select | ENSP00000218099.2:p.Glu79Asp | |
| ENST00000218099.6:c.237A>C | ENSP00000218099.2:p.Glu79Asp | |
| ENST00000394090.2:c.237A>C | ENSP00000377650.2:p.Glu79Asp | |
| ENST00000479617.2:n.241+3A>C | ||
| NM_000133.3:c.237A>C , LRG_556t1:c.237A>C | NP_000124.1:p.Glu79Asp | |
| NM_001313913.1:c.237A>C | NP_001300842.1:p.Glu79Asp | |
| XM_005262397.3:c.237A>C | XP_005262454.1:p.Glu79Asp | |
| XM_005262397.4:c.237A>C | XP_005262454.1:p.Glu79Asp | |
| NM_000133.4:c.237A>C MANE Select | NP_000124.1:p.Glu79Asp | |
| NM_001313913.2:c.237A>C | NP_001300842.1:p.Glu79Asp |