gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.004437 (NFE)
Genomes Max Group AF
0.00499581 (NFE)
Exomes Max Group AF
0.00437861 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.94288306C>T , CM000676.2:g.94288306C>T | GRCh38 |
| NC_000014.8:g.94754643C>T , CM000676.1:g.94754643C>T | GRCh37 |
| NC_000014.7:g.93824396C>T | NCBI36 |
| NG_021202.2:g.9954G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261994.9:c.972G>A MANE Select | ENSP00000261994.4:p.Trp324Ter | |
| ENST00000261994.8:c.972G>A | ENSP00000261994.4:p.Trp324Ter | |
| ENST00000393096.5:c.972G>A | ENSP00000376809.1:p.Trp324Ter | |
| ENST00000554173.1:c.972G>A | ENSP00000450971.1:p.Trp324Ter | |
| ENST00000554723.5:c.1092G>A | ENSP00000450896.1:p.Trp364Ter | |
| NM_001100607.2:c.972G>A | NP_001094077.1:p.Trp324Ter | |
| NM_016186.2:c.972G>A | NP_057270.1:p.Trp324Ter | |
| XM_005267733.3:c.972G>A | XP_005267790.1:p.Trp324Ter | |
| XM_006720159.2:c.1092G>A | XP_006720222.1:p.Trp364Ter | |
| XM_005267733.5:c.972G>A | XP_005267790.1:p.Trp324Ter | |
| XM_017021353.1:c.1092G>A | XP_016876842.1:p.Trp364Ter | |
| NM_001100607.3:c.972G>A MANE Select | NP_001094077.1:p.Trp324Ter | |
| NM_016186.3:c.972G>A | NP_057270.1:p.Trp324Ter |