gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00028771 (AMR)
Genomes Max Group AF
0.00025 (AFR)
Exomes Max Group AF
0.00024961 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.84170127C>T , CM000678.2:g.84170127C>T | GRCh38 |
| NC_000016.9:g.84203733C>T , CM000678.1:g.84203733C>T | GRCh37 |
| NC_000016.8:g.82761234C>T | NCBI36 |
| NG_021174.1:g.29869C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378553.10:c.1299C>T MANE Select | ENSP00000367815.5:p.Asp433= | |
| ENST00000378553.9:c.1299C>T | ENSP00000367815.5:p.Asp433= | |
| ENST00000563093.5:c.1225+74C>T | ENSP00000457373.1:n.1225+74C>T | |
| ENST00000563818.5:n.976C>T | ||
| ENST00000570298.5:n.1453C>T | ||
| NM_178452.4:c.1299C>T | NP_848547.4:p.Asp433= | |
| XM_006721129.1:c.1299C>T | XP_006721192.1:p.Asp433= | |
| XM_011522850.1:c.1347C>T | XP_011521152.1:p.Asp449= | |
| XM_011522851.1:c.1347C>T | XP_011521153.1:p.Asp449= | |
| XM_011522852.1:c.1299C>T | XP_011521154.1:p.Asp433= | |
| XM_011522853.1:c.1347C>T | XP_011521155.1:p.Asp449= | |
| XM_011522854.1:c.1347C>T | XP_011521156.1:p.Asp449= | |
| XM_011522855.1:c.1347C>T | XP_011521157.1:p.Asp449= | |
| XM_011522856.1:c.1086C>T | XP_011521158.1:p.Asp362= | |
| XM_011522857.1:c.1347C>T | XP_011521159.1:p.Asp449= | |
| XM_011522858.1:c.1347C>T | XP_011521160.1:p.Asp449= | |
| XM_011522859.1:c.591C>T | XP_011521161.1:p.Asp197= | |
| XM_011522860.1:c.591C>T | XP_011521162.1:p.Asp197= | |
| NM_001318756.1:c.591C>T | NP_001305685.1:p.Asp197= | |
| NM_178452.5:c.1299C>T | NP_848547.4:p.Asp433= | |
| XM_006721129.3:c.1299C>T | XP_006721192.1:p.Asp433= | |
| XM_011522853.3:c.1347C>T | XP_011521155.1:p.Asp449= | |
| XM_011522854.3:c.1347C>T | XP_011521156.1:p.Asp449= | |
| XM_011522855.3:c.1347C>T | XP_011521157.1:p.Asp449= | |
| XM_011522857.3:c.1347C>T | XP_011521159.1:p.Asp449= | |
| XM_011522858.3:c.1347C>T | XP_011521160.1:p.Asp449= | |
| XM_017022918.2:c.1299C>T | XP_016878407.1:p.Asp433= | |
| XM_017022919.1:c.1086C>T | XP_016878408.1:p.Asp362= | |
| XM_017022920.2:c.591C>T | XP_016878409.1:p.Asp197= | |
| XM_017022921.2:c.543C>T | XP_016878410.1:p.Asp181= | |
| XM_017022922.2:c.543C>T | XP_016878411.1:p.Asp181= | |
| XR_001751829.2:n.1521C>T | ||
| XR_001751830.2:n.1521C>T | ||
| XR_001751831.2:n.1473C>T | ||
| XR_001751832.1:n.1782C>T | ||
| NM_178452.6:c.1299C>T MANE Select | NP_848547.4:p.Asp433= |