This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001327 (AMR)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00001779 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39504130C>T , CM000681.2:g.39504130C>T | GRCh38 |
| NC_000019.9:g.39994770C>T , CM000681.1:g.39994770C>T | GRCh37 |
| NC_000019.8:g.44686610C>T | NCBI36 |
| NG_008256.1:g.10214C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356433.10:c.712C>T MANE Select | ENSP00000348810.4:p.Arg238Ter | |
| ENST00000205143.4:c.712C>T | ENSP00000205143.3:p.Arg238Ter | |
| ENST00000356433.9:c.712C>T | ENSP00000348810.4:p.Arg238Ter | |
| ENST00000596614.5:c.410-2909C>T | ENSP00000471688.1:n.410-2909C>T | |
| ENST00000600437.1:n.792C>T | ||
| NM_016941.3:c.712C>T | NP_058637.1:p.Arg238Ter | |
| NM_203486.2:c.712C>T | NP_982353.1:p.Arg238Ter | |
| NM_016941.4:c.712C>T | NP_058637.1:p.Arg238Ter | |
| NM_203486.3:c.712C>T MANE Select | NP_982353.1:p.Arg238Ter |