Linked Data
ClinVar Variation Id:
1963207
ClinVar RCV Id:
RCV002740008
dbSNP Id:
rs748878855
ExAC:
3:33155944 C / G
gnomAD v2:
3-33155944-C-G
gnomAD v4:
3-33114452-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.33114452C>G , CM000665.2:g.33114452C>G | GRCh38 |
| NC_000003.11:g.33155944C>G , CM000665.1:g.33155944C>G | GRCh37 |
| NC_000003.10:g.33130948C>G | NCBI36 |
| NG_008122.1:g.5495C>G , LRG_4:g.5495C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320954.11:c.375C>G MANE Select | ENSP00000323696.5:p.Gly125= | |
| ENST00000320954.10:c.375C>G | ENSP00000323696.5:p.Gly125= | |
| ENST00000449224.1:c.375C>G | ENSP00000409997.1:p.Gly125= | |
| NM_006371.4:c.375C>G , LRG_4t1:c.375C>G | NP_006362.1:p.Gly125= | |
| NM_006371.5:c.375C>G MANE Select | NP_006362.1:p.Gly125= | |
| NM_001393363.1:c.375C>G | NP_001380292.1:p.Gly125= | |
| NM_001393364.1:c.375C>G | NP_001380293.1:p.Gly125= | |
| NM_001393365.1:c.375C>G | NP_001380294.1:p.Gly125= |