Linked Data
ClinVar Variation Id:
207228
dbSNP Id:
rs200247956
ExAC:
1:43395326 G / A
gnomAD v2:
1-43395326-G-A
gnomAD v3:
1-42929655-G-A
gnomAD v4:
1-42929655-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42929655G>A , CM000663.2:g.42929655G>A | GRCh38 |
| NC_000001.10:g.43395326G>A , CM000663.1:g.43395326G>A | GRCh37 |
| NC_000001.9:g.43167913G>A | NCBI36 |
| NG_008232.1:g.34522C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.805C>T MANE Select | ENSP00000416293.2:p.Arg269Cys | |
| ENST00000669445.1:c.135C>T | ||
| ENST00000674765.1:c.805C>T | ENSP00000501811.1:p.Arg269Cys | |
| ENST00000675112.1:n.828C>T | ||
| ENST00000676254.1:n.1254C>T | ||
| ENST00000426263.7:c.805C>T | ENSP00000416293.2:p.Arg269Cys | |
| ENST00000439722.2:c.684C>T | ENSP00000395521.2:n.684C>T | |
| ENST00000475162.3:c.415+971C>T | ||
| ENST00000630287.2:c.*120C>T | ENSP00000486694.1:n.*120C>T | |
| NM_006516.2:c.805C>T | NP_006507.2:p.Arg269Cys | |
| NM_006516.3:c.805C>T | NP_006507.2:p.Arg269Cys | |
| NM_006516.4:c.805C>T MANE Select | NP_006507.2:p.Arg269Cys |