gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001298 (NFE)
Exomes Max Group AF
0.00001295 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66638993C>T , CM000669.2:g.66638993C>T | GRCh38 |
| NC_000007.13:g.66103980C>T , CM000669.1:g.66103980C>T | GRCh37 |
| NC_000007.12:g.65741415C>T | NCBI36 |
| NG_028110.1:g.15113C>T | |
| NG_028110.2:g.15113C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000275532.8:c.591C>T | ENSP00000275532.4:p.Cys197= | |
| ENST00000449064.6:c.505+64C>T | ||
| ENST00000503687.2:c.397+64C>T | ENSP00000421074.1:n.397+64C>T | |
| ENST00000638524.1:c.456C>T | ||
| ENST00000638540.1:c.435C>T | ||
| ENST00000639828.2:c.631C>T MANE Select | ENSP00000492240.1:p.Arg211Ter | |
| ENST00000639879.1:c.*494C>T | ENSP00000492161.1:n.*494C>T | |
| ENST00000640234.1:c.437+64C>T | ||
| ENST00000640385.1:c.631C>T | ENSP00000491193.1:p.Arg211Ter | |
| ENST00000640601.1:c.138C>T | ||
| ENST00000640851.1:c.567+64C>T | ENSP00000492577.1:n.567+64C>T | |
| ENST00000275532.7:c.631C>T | ENSP00000275532.3:p.Arg211Ter | |
| ENST00000443322.1:c.631C>T | ENSP00000411624.1:p.Arg211Ter | |
| ENST00000503687.1:c.397+64C>T | ENSP00000421074.1:n.397+64C>T | |
| NM_001167961.2:c.631C>T | NP_001161433.1:p.Arg211Ter | |
| NM_153033.4:c.631C>T | NP_694578.1:p.Arg211Ter | |
| NM_153033.5:c.631C>T MANE Select | NP_694578.1:p.Arg211Ter |