Revel Score:
ENST00000221486 (MANE Select)
0.738
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004346 (NFE)
Genomes Max Group AF
0.00002847 (NFE)
Exomes Max Group AF
0.00004178 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12807328C>G , CM000681.2:g.12807328C>G | GRCh38 |
| NC_000019.9:g.12918142C>G , CM000681.1:g.12918142C>G | GRCh37 |
| NC_000019.8:g.12779142C>G | NCBI36 |
| NG_012662.1:g.5715C>G , LRG_278:g.5715C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221486.6:c.322C>G (RNASEH2A) MANE Select | ENSP00000221486.4:p.Arg108Gly | |
| ENST00000590121.2:c.319C>G (RNASEH2A) | ENSP00000495087.1:p.Arg107Gly | |
| ENST00000590279.2:n.737C>G (RNASEH2A) | ||
| ENST00000593017.2:n.519C>G (RNASEH2A) | ||
| ENST00000639767.2:c.*201C>G (THSD8) | ENSP00000491410.2:n.*201C>G | |
| ENST00000643757.1:n.357C>G (RNASEH2A) | ||
| ENST00000646769.1:c.200-91C>G (RNASEH2A) | ENSP00000495175.1:n.200-91C>G | |
| ENST00000221486.4:c.322C>G (RNASEH2A) | ENSP00000221486.3:p.Arg108Gly | |
| ENST00000589765.1:n.41+17850G>C (HOOK2) | ||
| ENST00000590121.1:n.319C>G (RNASEH2A) | ||
| ENST00000590279.1:n.519C>G (RNASEH2A) | ||
| ENST00000593017.1:n.737C>G (RNASEH2A) | ||
| NM_006397.2:c.322C>G , LRG_278t1:c.322C>G (RNASEH2A) | NP_006388.2:p.Arg108Gly | |
| XM_006722619.2:c.190C>G (RNASEH2A) | XP_006722682.1:p.Arg64Gly | |
| NM_006397.3:c.322C>G (RNASEH2A) MANE Select | NP_006388.2:p.Arg108Gly |