Linked Data
ClinVar Variation Id:
295945
dbSNP Id:
rs775167348
ExAC:
1:225606998 G / A
gnomAD v2:
1-225606998-G-A
gnomAD v3:
1-225419296-G-A
gnomAD v4:
1-225419296-G-A
COSMIC:
COSM5053137
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.225419296G>A , CM000663.2:g.225419296G>A | GRCh38 |
| NC_000001.10:g.225606998G>A , CM000663.1:g.225606998G>A | GRCh37 |
| NC_000001.9:g.223673621G>A | NCBI36 |
| NG_008099.1:g.14522C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272163.9:c.607C>T MANE Select | ENSP00000272163.4:p.Arg203Trp | |
| ENST00000651341.1:c.607C>T | ENSP00000499114.1:p.Arg203Trp | |
| ENST00000272163.8:c.607C>T | ENSP00000272163.4:p.Arg203Trp | |
| ENST00000338179.6:c.607C>T | ENSP00000339883.2:p.Arg203Trp | |
| ENST00000425080.1:c.607C>T | ENSP00000388059.1:p.Arg203Trp | |
| ENST00000487054.1:n.67C>T | ||
| NM_002296.3:c.607C>T | NP_002287.2:p.Arg203Trp | |
| NM_194442.2:c.607C>T | NP_919424.1:p.Arg203Trp | |
| XM_005273125.2:c.607C>T | XP_005273182.1:p.Arg203Trp | |
| XM_011544185.1:c.607C>T | XP_011542487.1:p.Arg203Trp | |
| XM_011544186.1:c.607C>T | XP_011542488.1:p.Arg203Trp | |
| XM_011544187.1:c.607C>T | XP_011542489.1:p.Arg203Trp | |
| XM_005273125.3:c.607C>T | XP_005273182.1:p.Arg203Trp | |
| XM_011544185.3:c.607C>T | XP_011542487.1:p.Arg203Trp | |
| XR_001737168.2:n.734C>T | ||
| NM_002296.4:c.607C>T MANE Select | NP_002287.2:p.Arg203Trp | |
| NM_194442.3:c.607C>T | NP_919424.1:p.Arg203Trp |