gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0009065 (EAS)
Genomes Max Group AF
0.00118799 (EAS)
Exomes Max Group AF
0.00078168 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.23260003C>T , CM000669.2:g.23260003C>T | GRCh38 |
| NC_000007.13:g.23299622C>T , CM000669.1:g.23299622C>T | GRCh37 |
| NC_000007.12:g.23266147C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258733.9:c.565C>T MANE Select | ENSP00000258733.5:p.Arg189Ter | |
| ENST00000647578.1:c.565C>T | ENSP00000497362.1:p.Arg189Ter | |
| ENST00000258733.8:c.565C>T | ENSP00000258733.4:p.Arg189Ter | |
| ENST00000381990.6:c.565C>T | ENSP00000371420.2:p.Arg189Ter | |
| ENST00000465673.5:n.743C>T | ||
| NM_001005340.1:c.565C>T | NP_001005340.1:p.Arg189Ter | |
| NM_002510.2:c.565C>T | NP_002501.1:p.Arg189Ter | |
| XM_005249578.1:c.565C>T | XP_005249635.1:p.Arg189Ter | |
| XM_005249578.3:c.565C>T | XP_005249635.1:p.Arg189Ter | |
| XM_017011676.2:c.565C>T | XP_016867165.1:p.Arg189Ter | |
| XM_017011677.2:c.565C>T | XP_016867166.1:p.Arg189Ter | |
| XM_017011678.2:c.565C>T | XP_016867167.1:p.Arg189Ter | |
| NM_001005340.2:c.565C>T | NP_001005340.1:p.Arg189Ter | |
| NM_002510.3:c.565C>T MANE Select | NP_002501.1:p.Arg189Ter |