dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.56650833 (EAS)
Genomes Max Group AF
0.5727699 (EAS)
Exomes Max Group AF
0.56353413 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31623121C>T , CM000668.2:g.31623121C>T | GRCh38 |
| NC_000006.11:g.31590898C>T , CM000668.1:g.31590898C>T | GRCh37 |
| NC_000006.10:g.31698877C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376033.3:c.112+220C>T (PRRC2A) MANE Select | ENSP00000365201.2:n.112+220C>T | |
| ENST00000376007.8:c.112+220C>T (PRRC2A) | ENSP00000365175.4:n.112+220C>T | |
| ENST00000376033.2:c.112+220C>T (PRRC2A) | ENSP00000365201.2:n.112+220C>T | |
| ENST00000469577.5:n.136-1140C>T (PRRC2A) | ||
| NM_004638.3:c.112+220C>T (PRRC2A) | NP_004629.3:n.112+220C>T | |
| NM_080686.2:c.112+220C>T (PRRC2A) | NP_542417.2:n.112+220C>T | |
| NR_002971.1:n.43C>T (SNORA38) | ||
| XM_011514890.1:c.112+220C>T (PRRC2A) | XP_011513192.1:n.112+220C>T | |
| XM_017011274.1:c.112+220C>T (PRRC2A) | XP_016866763.1:n.112+220C>T | |
| NM_004638.4:c.112+220C>T (PRRC2A) MANE Select | NP_004629.3:n.112+220C>T | |
| NM_080686.3:c.112+220C>T (PRRC2A) | NP_542417.2:n.112+220C>T |