gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.72051822 (SAS)
Genomes Max Group AF
0.72051822 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.116360063C>T , CM000671.2:g.116360063C>T | GRCh38 |
| NC_000009.11:g.119122342C>T , CM000671.1:g.119122342C>T | GRCh37 |
| NC_000009.10:g.118162163C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328252.4:c.4348-2529C>T (PAPPA) MANE Select | ENSP00000330658.3:n.4348-2529C>T | |
| ENST00000328252.3:c.4348-2529C>T (PAPPA) | ENSP00000330658.3:n.4348-2529C>T | |
| NM_002581.3:c.4348-2529C>T (PAPPA) | NP_002572.2:n.4348-2529C>T | |
| XM_006717129.1:c.2254-2529C>T (PAPPA) | XP_006717192.1:n.2254-2529C>T | |
| NM_002581.4:c.4348-2529C>T (PAPPA) | NP_002572.2:n.4348-2529C>T | |
| XM_006717129.3:c.2254-2529C>T (PAPPA) | XP_006717192.1:n.2254-2529C>T | |
| XM_017014784.2:c.4234-2529C>T (PAPPA) | XP_016870273.1:n.4234-2529C>T | |
| NM_002581.5:c.4348-2529C>T (PAPPA) MANE Select | NP_002572.2:n.4348-2529C>T | |
| NR_170222.1:n.80+3534G>A (PAPPA-AS2) |