gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001804 (NFE)
Exomes Max Group AF
0.0000183 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75004850C>T , CM000676.2:g.75004850C>T | GRCh38 |
| NC_000014.8:g.75471553C>T , CM000676.1:g.75471553C>T | GRCh37 |
| NC_000014.7:g.74541306C>T | NCBI36 |
| NG_013333.1:g.6942C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266126.10:c.547C>T MANE Select | ENSP00000266126.5:p.Arg183Ter | |
| ENST00000266126.9:c.547C>T | ENSP00000266126.5:p.Arg183Ter | |
| ENST00000553401.5:c.520C>T | ENSP00000451681.1:p.Arg174Ter | |
| ENST00000553539.1:n.842C>T | ||
| ENST00000555522.1:n.605C>T | ||
| ENST00000556028.5:c.547C>T | ENSP00000452311.1:p.Arg183Ter | |
| NM_014239.3:c.547C>T | NP_055054.1:p.Arg183Ter | |
| NM_014239.4:c.547C>T MANE Select | NP_055054.1:p.Arg183Ter |