Revel Score:
ENST00000221486 (MANE Select)
0.920
gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12813164C>G , CM000681.2:g.12813164C>G | GRCh38 |
| NC_000019.9:g.12923978C>G , CM000681.1:g.12923978C>G | GRCh37 |
| NC_000019.8:g.12784978C>G | NCBI36 |
| NG_012662.1:g.11551C>G , LRG_278:g.11551C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221486.6:c.719C>G (RNASEH2A) MANE Select | ENSP00000221486.4:p.Thr240Arg | |
| ENST00000593017.2:n.1005C>G (RNASEH2A) | ||
| ENST00000639767.2:c.*598C>G (THSD8) | ENSP00000491410.2:n.*598C>G | |
| ENST00000643757.1:n.754C>G (RNASEH2A) | ||
| ENST00000646769.1:c.*379C>G (RNASEH2A) | ENSP00000495175.1:n.*379C>G | |
| ENST00000221486.4:c.719C>G (RNASEH2A) | ENSP00000221486.3:p.Thr240Arg | |
| ENST00000589765.1:n.41+12014G>C (HOOK2) | ||
| ENST00000593017.1:n.1134C>G (RNASEH2A) | ||
| NM_006397.2:c.719C>G , LRG_278t1:c.719C>G (RNASEH2A) | NP_006388.2:p.Thr240Arg | |
| XM_006722619.2:c.587C>G (RNASEH2A) | XP_006722682.1:p.Thr196Arg | |
| NM_006397.3:c.719C>G (RNASEH2A) MANE Select | NP_006388.2:p.Thr240Arg |