gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.05317048 (NFE)
Genomes Max Group AF
0.05537333 (NFE)
Exomes Max Group AF
0.04942408 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.101129483C>T , CM000673.2:g.101129483C>T | GRCh38 |
| NC_000011.9:g.101000214C>T , CM000673.1:g.101000214C>T | GRCh37 |
| NC_000011.8:g.100505424C>T | NCBI36 |
| NG_016475.1:g.5331G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325455.10:c.-413G>A (PGR) MANE Select | ENSP00000325120.5:n.-413G>A | |
| ENST00000325455.9:c.-413G>A (PGR) | ENSP00000325120.5:n.-413G>A | |
| ENST00000534013.5:c.-201G>A (PGR) | ENSP00000436561.1:n.-201G>A | |
| ENST00000617858.4:c.-413G>A (PGR) | ENSP00000481227.1:n.-413G>A | |
| ENST00000619228.2:c.-413G>A (PGR) | ENSP00000482698.1:n.-413G>A | |
| NM_000926.4:c.-413G>A (PGR) MANE Select | NP_000917.3:n.-413G>A | |
| NM_001271162.1:c.-201G>A (PGR) | NP_001258091.1:n.-201G>A | |
| NR_073144.1:n.407C>T (PGR-AS1) | ||
| XM_006718858.2:c.-413G>A (PGR) | XP_006718921.1:n.-413G>A | |
| XM_011542869.1:c.-413G>A (PGR) | XP_011541171.1:n.-413G>A | |
| XR_947831.1:n.1160G>A (PGR) | ||
| XM_006718858.3:c.-413G>A (PGR) | XP_006718921.1:n.-413G>A | |
| XM_011542869.2:c.-413G>A (PGR) | XP_011541171.1:n.-413G>A | |
| NM_001271162.2:c.-201G>A (PGR) | NP_001258091.1:n.-201G>A |