Revel Score:
ENST00000221486 (MANE Select)
0.946
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001144 (NFE)
Exomes Max Group AF
0.00001213 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12813149G>A , CM000681.2:g.12813149G>A | GRCh38 |
| NC_000019.9:g.12923963G>A , CM000681.1:g.12923963G>A | GRCh37 |
| NC_000019.8:g.12784963G>A | NCBI36 |
| NG_012662.1:g.11536G>A , LRG_278:g.11536G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221486.6:c.704G>A (RNASEH2A) MANE Select | ENSP00000221486.4:p.Arg235Gln | |
| ENST00000593017.2:n.990G>A (RNASEH2A) | ||
| ENST00000639767.2:c.*583G>A (THSD8) | ENSP00000491410.2:n.*583G>A | |
| ENST00000643757.1:n.739G>A (RNASEH2A) | ||
| ENST00000646769.1:c.*364G>A (RNASEH2A) | ENSP00000495175.1:n.*364G>A | |
| ENST00000221486.4:c.704G>A (RNASEH2A) | ENSP00000221486.3:p.Arg235Gln | |
| ENST00000589765.1:n.41+12029C>T (HOOK2) | ||
| ENST00000593017.1:n.1119G>A (RNASEH2A) | ||
| NM_006397.2:c.704G>A , LRG_278t1:c.704G>A (RNASEH2A) | NP_006388.2:p.Arg235Gln | |
| XM_006722619.2:c.572G>A (RNASEH2A) | XP_006722682.1:p.Arg191Gln | |
| NM_006397.3:c.704G>A (RNASEH2A) MANE Select | NP_006388.2:p.Arg235Gln |