gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01085194 (SAS)
Genomes Max Group AF
0.00991881 (SAS)
Exomes Max Group AF
0.01078177 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128839539G>A , CM000673.2:g.128839539G>A | GRCh38 |
| NC_000011.9:g.128709434G>A , CM000673.1:g.128709434G>A | GRCh37 |
| NC_000011.8:g.128214644G>A | NCBI36 |
| NG_009379.1:g.32835C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392666.6:c.705C>T MANE Select | ENSP00000376434.1:p.Asp235= | |
| ENST00000324036.7:c.705C>T | ENSP00000316233.3:p.Asp235= | |
| ENST00000392664.2:c.762C>T | ENSP00000376432.2:p.Asp254= | |
| ENST00000392665.6:c.705C>T | ENSP00000376433.2:p.Asp235= | |
| ENST00000392666.5:c.705C>T | ENSP00000376434.1:p.Asp235= | |
| ENST00000440599.6:c.705C>T | ENSP00000406320.2:p.Asp235= | |
| NM_000220.4:c.762C>T | NP_000211.1:p.Asp254= | |
| NM_153764.2:c.705C>T | NP_722448.1:p.Asp235= | |
| NM_153765.2:c.756C>T | NP_722449.3:p.Asp252= | |
| NM_153766.2:c.705C>T | NP_722450.1:p.Asp235= | |
| NM_153767.3:c.705C>T | NP_722451.1:p.Asp235= | |
| NM_000220.6:c.762C>T | NP_000211.1:p.Asp254= | |
| NM_153764.3:c.705C>T | NP_722448.1:p.Asp235= | |
| NM_153765.3:c.756C>T | NP_722449.3:p.Asp252= | |
| NM_153766.3:c.705C>T MANE Select | NP_722450.1:p.Asp235= | |
| NM_153767.4:c.705C>T | NP_722451.1:p.Asp235= |