Revel Score:
ENST00000221486 (MANE Select)
0.823
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000763 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.00000531 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12810323C>T , CM000681.2:g.12810323C>T | GRCh38 |
| NC_000019.9:g.12921137C>T , CM000681.1:g.12921137C>T | GRCh37 |
| NC_000019.8:g.12782137C>T | NCBI36 |
| NG_012662.1:g.8710C>T , LRG_278:g.8710C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221486.6:c.556C>T (RNASEH2A) MANE Select | ENSP00000221486.4:p.Arg186Trp | |
| ENST00000593017.2:n.842C>T (RNASEH2A) | ||
| ENST00000639767.2:c.*435C>T (THSD8) | ENSP00000491410.2:n.*435C>T | |
| ENST00000643757.1:n.591C>T (RNASEH2A) | ||
| ENST00000646769.1:c.*216C>T (RNASEH2A) | ENSP00000495175.1:n.*216C>T | |
| ENST00000221486.4:c.556C>T (RNASEH2A) | ENSP00000221486.3:p.Arg186Trp | |
| ENST00000589765.1:n.41+14855G>A (HOOK2) | ||
| ENST00000593017.1:n.971C>T (RNASEH2A) | ||
| NM_006397.2:c.556C>T , LRG_278t1:c.556C>T (RNASEH2A) | NP_006388.2:p.Arg186Trp | |
| XM_006722619.2:c.424C>T (RNASEH2A) | XP_006722682.1:p.Arg142Trp | |
| NM_006397.3:c.556C>T (RNASEH2A) MANE Select | NP_006388.2:p.Arg186Trp |