Revel Score:
ENST00000221486 (MANE Select)
0.770
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12813133T>C , CM000681.2:g.12813133T>C | GRCh38 |
| NC_000019.9:g.12923947T>C , CM000681.1:g.12923947T>C | GRCh37 |
| NC_000019.8:g.12784947T>C | NCBI36 |
| NG_012662.1:g.11520T>C , LRG_278:g.11520T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221486.6:c.688T>C (RNASEH2A) MANE Select | ENSP00000221486.4:p.Phe230Leu | |
| ENST00000593017.2:n.974T>C (RNASEH2A) | ||
| ENST00000639767.2:c.*567T>C (THSD8) | ENSP00000491410.2:n.*567T>C | |
| ENST00000643757.1:n.723T>C (RNASEH2A) | ||
| ENST00000646769.1:c.*348T>C (RNASEH2A) | ENSP00000495175.1:n.*348T>C | |
| ENST00000221486.4:c.688T>C (RNASEH2A) | ENSP00000221486.3:p.Phe230Leu | |
| ENST00000589765.1:n.41+12045A>G (HOOK2) | ||
| ENST00000593017.1:n.1103T>C (RNASEH2A) | ||
| NM_006397.2:c.688T>C , LRG_278t1:c.688T>C (RNASEH2A) | NP_006388.2:p.Phe230Leu | |
| XM_006722619.2:c.556T>C (RNASEH2A) | XP_006722682.1:p.Phe186Leu | |
| NM_006397.3:c.688T>C (RNASEH2A) MANE Select | NP_006388.2:p.Phe230Leu |