Linked Data
ClinVar Variation Id:
1547459
ClinVar RCV Id:
RCV002173443
dbSNP Id:
rs2149079198
gnomAD v4:
4-121854795-A-G
MyVariant Identifiers:
chr4:g.122775950A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.121854795A>G , CM000666.2:g.121854795A>G | GRCh38 |
| NC_000004.11:g.122775950A>G , CM000666.1:g.122775950A>G | GRCh37 |
| NC_000004.10:g.122995400A>G | NCBI36 |
| NG_009111.1:g.20693T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264499.9:c.627T>C MANE Select | ENSP00000264499.4:p.Phe209= | |
| ENST00000264499.8:c.627T>C | ENSP00000264499.4:p.Phe209= | |
| ENST00000506636.1:c.627T>C | ENSP00000423626.1:p.Phe209= | |
| NM_018190.3:c.627T>C | NP_060660.2:p.Phe209= | |
| NM_176824.2:c.627T>C | NP_789794.1:p.Phe209= | |
| XM_005263106.2:c.630T>C | XP_005263163.1:p.Phe210= | |
| XM_011532079.1:c.675T>C | XP_011530381.1:p.Phe225= | |
| XM_011532080.1:c.672T>C | XP_011530382.1:p.Phe224= | |
| XM_011532081.1:c.675T>C | XP_011530383.1:p.Phe225= | |
| XM_005263106.4:c.630T>C | XP_005263163.1:p.Phe210= | |
| XM_011532079.3:c.675T>C | XP_011530381.1:p.Phe225= | |
| XM_011532080.3:c.672T>C | XP_011530382.1:p.Phe224= | |
| XM_011532081.3:c.675T>C | XP_011530383.1:p.Phe225= | |
| XM_017008357.2:c.627T>C | XP_016863846.1:p.Phe209= | |
| XM_017008358.2:c.630T>C | XP_016863847.1:p.Phe210= | |
| NM_176824.3:c.627T>C MANE Select | NP_789794.1:p.Phe209= | |
| NM_018190.4:c.627T>C | NP_060660.2:p.Phe209= |