Linked Data
ClinVar Variation Id:
2221943
ClinVar RCV Id:
RCV004084040
dbSNP Id:
rs2076529060
gnomAD v3:
17-78223531-G-A
gnomAD v4:
17-78223531-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78223531G>A , CM000679.2:g.78223531G>A | GRCh38 |
| NC_000017.10:g.76219612G>A , CM000679.1:g.76219612G>A | GRCh37 |
| NC_000017.9:g.73731207G>A | NCBI36 |
| NG_029069.1:g.14336G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350051.8:c.406G>A MANE Select | ENSP00000324180.4:p.Glu136Lys | |
| ENST00000301633.8:c.475G>A | ENSP00000301633.3:p.Glu159Lys | |
| ENST00000350051.7:c.406G>A | ENSP00000324180.4:p.Glu136Lys | |
| ENST00000374948.6:c.288G>A | ENSP00000364086.1:p.Ser96= | |
| ENST00000589892.1:n.422G>A | ||
| ENST00000590925.6:c.*208G>A | ENSP00000467336.1:n.*208G>A | |
| NM_001012270.1:c.288G>A | NP_001012270.1:p.Ser96= | |
| NM_001012271.1:c.475G>A | NP_001012271.1:p.Glu159Lys | |
| NM_001168.2:c.406G>A | NP_001159.2:p.Glu136Lys | |
| XR_243654.3:n.608G>A | ||
| XR_934452.1:n.677G>A | ||
| XR_243654.5:n.608G>A | ||
| XR_934452.3:n.677G>A | ||
| NM_001168.3:c.406G>A MANE Select | NP_001159.2:p.Glu136Lys | |
| NM_001012270.2:c.288G>A | NP_001012270.1:p.Ser96= | |
| NM_001012271.2:c.475G>A | NP_001012271.1:p.Glu159Lys |