Revel Score:
ENST00000221486 (MANE Select)
0.635
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12813135C>A , CM000681.2:g.12813135C>A | GRCh38 |
| NC_000019.9:g.12923949C>A , CM000681.1:g.12923949C>A | GRCh37 |
| NC_000019.8:g.12784949C>A | NCBI36 |
| NG_012662.1:g.11522C>A , LRG_278:g.11522C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221486.6:c.690C>A (RNASEH2A) MANE Select | ENSP00000221486.4:p.Phe230Leu | |
| ENST00000593017.2:n.976C>A (RNASEH2A) | ||
| ENST00000639767.2:c.*569C>A (THSD8) | ENSP00000491410.2:n.*569C>A | |
| ENST00000643757.1:n.725C>A (RNASEH2A) | ||
| ENST00000646769.1:c.*350C>A (RNASEH2A) | ENSP00000495175.1:n.*350C>A | |
| ENST00000221486.4:c.690C>A (RNASEH2A) | ENSP00000221486.3:p.Phe230Leu | |
| ENST00000589765.1:n.41+12043G>T (HOOK2) | ||
| ENST00000593017.1:n.1105C>A (RNASEH2A) | ||
| NM_006397.2:c.690C>A , LRG_278t1:c.690C>A (RNASEH2A) | NP_006388.2:p.Phe230Leu | |
| XM_006722619.2:c.558C>A (RNASEH2A) | XP_006722682.1:p.Phe186Leu | |
| NM_006397.3:c.690C>A (RNASEH2A) MANE Select | NP_006388.2:p.Phe230Leu |