gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30751140C>T , CM000678.2:g.30751140C>T | GRCh38 |
| NC_000016.9:g.30762461C>T , CM000678.1:g.30762461C>T | GRCh37 |
| NC_000016.8:g.30669962C>T | NCBI36 |
| NG_016616.1:g.7842C>T | |
| NG_016616.2:g.7842C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563588.6:c.130C>T MANE Select | ENSP00000455607.1:p.Arg44Ter | |
| ENST00000328273.11:c.130C>T | ENSP00000329968.7:p.Arg44Ter | |
| ENST00000424889.7:c.130C>T | ENSP00000388571.3:p.Arg44Ter | |
| ENST00000563588.5:c.130C>T | ENSP00000455607.1:p.Arg44Ter | |
| ENST00000563607.1:c.130C>T | ENSP00000454641.1:p.Arg44Ter | |
| ENST00000563913.5:n.196C>T | ||
| ENST00000564838.5:n.237C>T | ||
| ENST00000565897.5:c.130C>T | ENSP00000457359.1:p.Arg44Ter | |
| ENST00000565924.5:c.130C>T | ENSP00000455091.1:p.Arg44Ter | |
| ENST00000569762.1:n.107C>T | ||
| NM_000294.2:c.130C>T | NP_000285.1:p.Arg44Ter | |
| NM_001172432.1:c.130C>T | NP_001165903.1:p.Arg44Ter | |
| NM_000294.3:c.130C>T MANE Select | NP_000285.1:p.Arg44Ter | |
| NM_001172432.2:c.130C>T | NP_001165903.1:p.Arg44Ter |