gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.73381332 (AFR)
Genomes Max Group AF
0.70344207 (AFR)
Exomes Max Group AF
0.75911565 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12720687G>T , CM000686.2:g.12720687G>T | GRCh38 |
| NC_000024.9:g.14832620G>T , CM000686.1:g.14832620G>T | GRCh37 |
| NC_000024.8:g.13342014G>T | NCBI36 |
| NG_008311.1:g.24461G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651177.1:c.195G>T | ENSP00000498372.1:p.Glu65Asp | |
| ENST00000338981.7:c.195G>T MANE Select | ENSP00000342812.3:p.Glu65Asp | |
| ENST00000426564.6:n.207G>T | ||
| ENST00000493168.1:n.271G>T | ||
| NM_004654.3:c.195G>T | NP_004645.2:p.Glu65Asp | |
| XM_011531469.1:c.195G>T | XP_011529771.1:p.Glu65Asp | |
| XM_011531470.1:c.-40G>T | XP_011529772.1:n.-40G>T | |
| XM_017030078.2:c.195G>T | XP_016885567.1:p.Glu65Asp | |
| NM_004654.4:c.195G>T MANE Select | NP_004645.2:p.Glu65Asp |