gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.67874456 (MID)
Genomes Max Group AF
0.66833483 (AFR)
Exomes Max Group AF
0.57307906 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32168770T>G , CM000668.2:g.32168770T>G | GRCh38 |
| NC_000006.11:g.32136547T>G , CM000668.1:g.32136547T>G | GRCh37 |
| NC_000006.10:g.32244525T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375107.8:c.*506A>C (AGPAT1) MANE Select | ENSP00000364248.3:n.*506A>C | |
| ENST00000336984.6:c.*506A>C (AGPAT1) | ENSP00000337463.6:n.*506A>C | |
| ENST00000375104.6:c.*506A>C (AGPAT1) | ENSP00000364245.2:n.*506A>C | |
| ENST00000375107.7:c.*506A>C (AGPAT1) | ENSP00000364248.3:n.*506A>C | |
| ENST00000395496.5:c.*506A>C (AGPAT1) | ENSP00000378874.1:n.*506A>C | |
| ENST00000395497.5:c.*506A>C (AGPAT1) | ENSP00000378875.1:n.*506A>C | |
| ENST00000395499.5:c.*506A>C (AGPAT1) | ENSP00000378877.1:n.*506A>C | |
| ENST00000422437.5:c.*1378+234T>G (PPT2-EGFL8) | ENSP00000457534.1:n.*1378+234T>G | |
| ENST00000490711.5:n.1890A>C (AGPAT1) | ||
| NM_006411.3:c.*506A>C (AGPAT1) | NP_006402.1:n.*506A>C | |
| NM_032741.4:c.*506A>C (AGPAT1) | NP_116130.2:n.*506A>C | |
| XM_005248805.2:c.*506A>C (AGPAT1) | XP_005248862.1:n.*506A>C | |
| XM_005248806.1:c.*506A>C (AGPAT1) | XP_005248863.1:n.*506A>C | |
| XM_011514234.1:c.*506A>C (AGPAT1) | XP_011512536.1:n.*506A>C | |
| XM_005248805.4:c.*506A>C (AGPAT1) | XP_005248862.1:n.*506A>C | |
| XM_005248806.2:c.*506A>C (AGPAT1) | XP_005248863.1:n.*506A>C | |
| NM_006411.4:c.*506A>C (AGPAT1) MANE Select | NP_006402.1:n.*506A>C | |
| NM_001371437.1:c.*506A>C (AGPAT1) | NP_001358366.1:n.*506A>C | |
| NM_001371438.1:c.*506A>C (AGPAT1) | NP_001358367.1:n.*506A>C | |
| NM_001371439.1:c.*506A>C (AGPAT1) | NP_001358368.1:n.*506A>C | |
| NM_032741.5:c.*506A>C (AGPAT1) | NP_116130.2:n.*506A>C |