Linked Data
ClinVar Variation Id:
811513
ClinVar RCV Id:
RCV001001427
dbSNP Id:
rs1603267474
COSMIC:
COSM4525348
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.139562010G>A , CM000685.2:g.139562010G>A | GRCh38 |
| NC_000023.10:g.138644169G>A , CM000685.1:g.138644169G>A | GRCh37 |
| NC_000023.9:g.138471835G>A | NCBI36 |
| NG_007994.1:g.36275G>A , LRG_556:g.36275G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218099.7:c.1325G>A MANE Select | ENSP00000218099.2:p.Gly442Glu | |
| ENST00000643157.1:n.1723+269G>A | ||
| ENST00000218099.6:c.1325G>A | ENSP00000218099.2:p.Gly442Glu | |
| ENST00000394090.2:c.1211G>A | ENSP00000377650.2:p.Gly404Glu | |
| NM_000133.3:c.1325G>A , LRG_556t1:c.1325G>A | NP_000124.1:p.Gly442Glu | |
| NM_001313913.1:c.1211G>A | NP_001300842.1:p.Gly404Glu | |
| XM_005262397.3:c.1196G>A | XP_005262454.1:p.Gly399Glu | |
| XM_005262397.4:c.1196G>A | XP_005262454.1:p.Gly399Glu | |
| NM_000133.4:c.1325G>A MANE Select | NP_000124.1:p.Gly442Glu | |
| NM_001313913.2:c.1211G>A | NP_001300842.1:p.Gly404Glu |