gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001221 (NFE)
Exomes Max Group AF
0.00001296 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236427427C>T , CM000663.2:g.236427427C>T | GRCh38 |
| NC_000001.10:g.236590727C>T , CM000663.1:g.236590727C>T | GRCh37 |
| NC_000001.9:g.234657350C>T | NCBI36 |
| NG_011566.1:g.38048C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334232.9:c.196C>T MANE Select | ENSP00000335076.4:p.Arg66Ter | |
| ENST00000359362.6:c.166C>T | ENSP00000352320.4:p.Arg56Ter | |
| ENST00000637660.1:c.130C>T | ENSP00000490347.1:p.Arg44Ter | |
| ENST00000642595.1:c.166C>T | ENSP00000494458.1:p.Arg56Ter | |
| ENST00000334232.8:c.196C>T | ENSP00000335076.4:p.Arg66Ter | |
| ENST00000359362.5:c.166C>T | ENSP00000352320.4:p.Arg56Ter | |
| ENST00000439430.5:c.130C>T | ENSP00000405815.1:p.Arg44Ter | |
| NM_080738.3:c.166C>T | NP_542776.1:p.Arg56Ter | |
| NM_145861.2:c.196C>T | NP_665860.2:p.Arg66Ter | |
| NM_080738.4:c.166C>T | NP_542776.1:p.Arg56Ter | |
| NM_145861.4:c.196C>T MANE Select | NP_665860.2:p.Arg66Ter |