Linked Data
ClinVar Variation Id:
242793
ClinVar RCV Id:
RCV000782231
dbSNP Id:
rs121917890
ExAC:
3:124454069 A / G
gnomAD v2:
3-124454069-A-G
gnomAD v3:
3-124735222-A-G
gnomAD v4:
3-124735222-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.124735222A>G , CM000665.2:g.124735222A>G | GRCh38 |
| NC_000003.11:g.124454069A>G , CM000665.1:g.124454069A>G | GRCh37 |
| NC_000003.10:g.125936759A>G | NCBI36 |
| NG_017037.1:g.9857A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000232607.7:c.286A>G MANE Select | ENSP00000232607.2:p.Arg96Gly | |
| ENST00000232607.6:c.286A>G | ENSP00000232607.2:p.Arg96Gly | |
| ENST00000460034.5:c.*55-2346A>G | ENSP00000420409.1:n.*55-2346A>G | |
| ENST00000462091.5:c.157-2346A>G | ENSP00000417893.1:n.157-2346A>G | |
| ENST00000467167.5:c.*184A>G | ENSP00000419618.1:n.*184A>G | |
| ENST00000474588.5:c.286A>G | ENSP00000420348.1:p.Arg96Gly | |
| ENST00000479719.5:c.286A>G | ENSP00000420754.1:p.Arg96Gly | |
| ENST00000497791.5:c.157-2346A>G | ENSP00000419121.1:n.157-2346A>G | |
| NM_000373.3:c.286A>G | NP_000364.1:p.Arg96Gly | |
| NR_033434.1:n.263-2346A>G | ||
| NR_033437.1:n.491A>G | ||
| XR_001740253.2:n.316A>G | ||
| NM_000373.4:c.286A>G MANE Select | NP_000364.1:p.Arg96Gly | |
| NR_033434.2:n.177-2346A>G | ||
| NR_033437.2:n.405A>G |