Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.43081058C>G , CM000681.2:g.43081058C>G | GRCh38 |
| NC_000019.9:g.43585210C>G , CM000681.1:g.43585210C>G | GRCh37 |
| NC_000019.8:g.48277050C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_031246.4:c.253G>C (PSG2) MANE Select | NP_112536.2:p.Asp85His |
| ENST00000406487.6:c.253G>C (PSG2) MANE Select | ENSP00000385706.1:p.Asp85His |
| NM_031246.3:c.253G>C (PSG2) | NP_112536.2:p.Asp85His |
| ENST00000406487.5:c.253G>C (PSG2) | ENSP00000385706.1:p.Asp85His |
| ENST00000593482.1:n.94+1894G>C (PSG2) | |
| ENST00000618424.4:c.253G>C (PSG7) | ENSP00000478484.1:p.Asp85His |
| XM_011527131.1:c.965-47686G>C (PSG5) | XP_011525433.1:n.965-47686G>C |