Linked Data
ClinVar Variation Id:
30264
dbSNP Id:
rs387906838
gnomAD v3:
7-100104125-G-A
gnomAD v4:
7-100104125-G-A
PubMed:
PMID:21937992
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100104125G>A , CM000669.2:g.100104125G>A | GRCh38 |
| NC_000007.13:g.99701748G>A , CM000669.1:g.99701748G>A | GRCh37 |
| NC_000007.12:g.99539684G>A | NCBI36 |
| NG_016312.1:g.7619G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000445295.2:c.577G>A | ENSP00000393723.2:p.Glu193Lys | |
| ENST00000495154.2:n.836G>A | ||
| ENST00000713591.1:c.577G>A | ENSP00000518888.1:p.Glu193Lys | |
| ENST00000359593.9:c.577G>A MANE Select | ENSP00000352603.4:p.Glu193Lys | |
| ENST00000359593.8:c.577G>A | ENSP00000352603.4:p.Glu193Lys | |
| ENST00000416938.5:c.533G>A | ||
| ENST00000421755.5:c.577G>A | ENSP00000412185.1:p.Glu193Lys | |
| ENST00000422582.5:c.193G>A | ENSP00000406676.1:p.Glu65Lys | |
| ENST00000429084.5:c.598G>A | ENSP00000403663.1:p.Glu200Lys | |
| ENST00000438383.5:c.373G>A | ENSP00000401613.1:p.Glu125Lys | |
| ENST00000439416.5:c.445G>A | ENSP00000414286.1:p.Glu149Lys | |
| ENST00000445208.5:c.*186G>A | ENSP00000400598.1:n.*186G>A | |
| ENST00000446007.5:c.577G>A | ENSP00000396928.1:p.Glu193Lys | |
| ENST00000463195.5:n.651G>A | ||
| ENST00000479916.1:n.159G>A | ||
| NM_004722.3:c.577G>A | NP_004713.2:p.Glu193Lys | |
| XM_005250689.3:c.598G>A | XP_005250746.1:p.Glu200Lys | |
| XM_005250690.3:c.373G>A | XP_005250747.1:p.Glu125Lys | |
| XM_006716175.2:c.598G>A | XP_006716238.1:p.Glu200Lys | |
| XM_011516685.1:c.598G>A | XP_011514987.1:p.Glu200Lys | |
| XM_011516686.1:c.193G>A | XP_011514988.1:p.Glu65Lys | |
| XM_011516687.1:c.-32G>A | XP_011514989.1:n.-32G>A | |
| NM_001363671.1:c.598G>A | NP_001350600.1:p.Glu200Lys | |
| XM_005250689.4:c.598G>A | XP_005250746.1:p.Glu200Lys | |
| XM_005250690.4:c.373G>A | XP_005250747.1:p.Glu125Lys | |
| XM_006716175.4:c.598G>A | XP_006716238.1:p.Glu200Lys | |
| XM_017012790.2:c.193G>A | XP_016868279.1:p.Glu65Lys | |
| XM_017012791.2:c.-32G>A | XP_016868280.1:n.-32G>A | |
| XM_024446995.1:c.577G>A | XP_024302763.1:p.Glu193Lys | |
| XM_024446996.1:c.-32G>A | XP_024302764.1:n.-32G>A | |
| NM_004722.4:c.577G>A MANE Select | NP_004713.2:p.Glu193Lys | |
| NM_001363671.2:c.598G>A | NP_001350600.1:p.Glu200Lys |