Linked Data
ClinVar Variation Id:
29958
ClinVar RCV Id:
RCV000022850
dbSNP Id:
rs387906713
gnomAD v4:
X-110688800-C-A
PubMed:
PMID:22284829
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.110688800C>A , CM000685.2:g.110688800C>A | GRCh38 |
| NC_000023.10:g.109932028C>A , CM000685.1:g.109932028C>A | GRCh37 |
| NC_000023.9:g.109818684C>A | NCBI36 |
| NG_012816.1:g.112259G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372042.6:c.782G>T MANE Select | ENSP00000361112.1:p.Cys261Phe | |
| ENST00000372042.5:c.782G>T | ENSP00000361112.1:p.Cys261Phe | |
| ENST00000372045.5:c.761G>T | ENSP00000361115.1:p.Cys254Phe | |
| ENST00000394797.8:c.779G>T | ENSP00000378276.4:p.Cys260Phe | |
| ENST00000444321.2:c.779G>T | ENSP00000399739.2:p.Cys260Phe | |
| ENST00000482160.5:c.542G>T | ENSP00000418443.1:p.Cys181Phe | |
| NM_001143981.1:c.782G>T | NP_001137453.1:p.Cys261Phe | |
| NM_001143982.1:c.779G>T | NP_001137454.1:p.Cys260Phe | |
| NM_001143983.2:c.542G>T | NP_001137455.2:p.Cys181Phe | |
| NM_145234.3:c.779G>T | NP_660277.2:p.Cys260Phe | |
| XM_005262221.1:c.782G>T | XP_005262278.1:p.Cys261Phe | |
| XM_005262222.3:c.779G>T | XP_005262279.1:p.Cys260Phe | |
| XM_005262223.1:c.782G>T | XP_005262280.1:p.Cys261Phe | |
| XM_005262224.1:c.779G>T | XP_005262281.1:p.Cys260Phe | |
| XM_017029959.1:c.782G>T | XP_016885448.1:p.Cys261Phe | |
| NM_001367204.1:c.782G>T | NP_001354133.1:p.Cys261Phe | |
| NM_001367205.1:c.782G>T | NP_001354134.1:p.Cys261Phe | |
| NM_001367206.1:c.782G>T | NP_001354135.1:p.Cys261Phe | |
| NM_001367207.1:c.779G>T | NP_001354136.1:p.Cys260Phe | |
| NM_001367208.1:c.782G>T | NP_001354137.1:p.Cys261Phe | |
| NM_001367209.1:c.782G>T | NP_001354138.1:p.Cys261Phe | |
| NR_159734.1:n.1045G>T | ||
| NM_001143981.2:c.782G>T MANE Select | NP_001137453.1:p.Cys261Phe | |
| NM_001143982.2:c.779G>T | NP_001137454.1:p.Cys260Phe | |
| NM_001143983.3:c.542G>T | NP_001137455.2:p.Cys181Phe | |
| NM_145234.4:c.779G>T | NP_660277.2:p.Cys260Phe |