Linked Data
dbSNP Id:
rs769802346
ExAC:
5:52351483 T / C
gnomAD v2:
5-52351483-T-C
gnomAD v4:
5-53055653-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.53055653T>C , CM000667.2:g.53055653T>C | GRCh38 |
| NC_000005.9:g.52351483T>C , CM000667.1:g.52351483T>C | GRCh37 |
| NC_000005.8:g.52387240T>C | NCBI36 |
| NG_008330.1:g.71328T>C | |
| NG_008330.2:g.71328T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296585.10:c.895T>C MANE Select | ENSP00000296585.5:p.Cys299Arg | |
| ENST00000296585.9:c.895T>C | ENSP00000296585.5:p.Cys299Arg | |
| ENST00000503810.6:c.*239T>C | ENSP00000426489.1:n.*239T>C | |
| ENST00000509814.5:c.895T>C | ENSP00000424397.1:p.Cys299Arg | |
| ENST00000509960.5:c.895T>C | ENSP00000424642.1:p.Cys299Arg | |
| ENST00000510722.1:c.895T>C | ENSP00000422145.1:p.Cys299Arg | |
| ENST00000513685.5:c.*609T>C | ENSP00000422095.1:n.*609T>C | |
| NM_002203.3:c.895T>C | NP_002194.2:p.Cys299Arg | |
| NR_073103.1:n.1038T>C | ||
| NR_073104.1:n.1038T>C | ||
| NR_073105.1:n.1038T>C | ||
| NR_073106.1:n.1038T>C | ||
| NR_073107.1:n.917T>C | ||
| NM_002203.4:c.895T>C MANE Select | NP_002194.2:p.Cys299Arg | |
| NR_073103.2:n.1012T>C | ||
| NR_073104.2:n.1012T>C | ||
| NR_073105.2:n.1012T>C | ||
| NR_073106.2:n.1012T>C | ||
| NR_073107.2:n.891T>C |