gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.148217323C>T , CM000669.2:g.148217323C>T | GRCh38 |
| NC_000007.13:g.147914415C>T , CM000669.1:g.147914415C>T | GRCh37 |
| NC_000007.12:g.147545348C>T | NCBI36 |
| NG_007092.2:g.2105963C>T | |
| NG_007092.3:g.2106323C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361727.8:c.3046C>T MANE Select | ENSP00000354778.3:p.Arg1016Ter | |
| ENST00000636870.1:n.2908C>T | ||
| ENST00000637020.1:n.864C>T | ||
| ENST00000361727.7:c.3046C>T | ENSP00000354778.3:p.Arg1016Ter | |
| ENST00000627772.2:n.1219C>T | ||
| ENST00000628930.2:c.223C>T | ENSP00000487516.1:p.Arg75Ter | |
| NM_014141.5:c.3046C>T | NP_054860.1:p.Arg1016Ter | |
| XM_006715919.1:c.1534C>T | XP_006715982.1:p.Arg512Ter | |
| NM_014141.6:c.3046C>T MANE Select | NP_054860.1:p.Arg1016Ter |