gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001071 (AFR)
Exomes Max Group AF
0.00000992 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.43071794T>C , CM000681.2:g.43071794T>C | GRCh38 |
| NC_000019.9:g.43575946T>C , CM000681.1:g.43575946T>C | GRCh37 |
| NC_000019.8:g.48267786T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000406487.6:c.870A>G (PSG2) MANE Select | ENSP00000385706.1:p.Gln290= | |
| ENST00000329509.6:c.215A>G (PSG2) | ||
| ENST00000406487.5:c.870A>G (PSG2) | ENSP00000385706.1:p.Gln290= | |
| ENST00000593482.1:n.534A>G (PSG2) | ||
| ENST00000618424.4:c.709+3560A>G (PSG7) | ENSP00000478484.1:n.709+3560A>G | |
| NM_031246.3:c.870A>G (PSG2) | NP_112536.2:p.Gln290= | |
| XM_011527131.1:c.965-38422A>G (PSG5) | XP_011525433.1:n.965-38422A>G | |
| NM_031246.4:c.870A>G (PSG2) MANE Select | NP_112536.2:p.Gln290= |