Revel Score:
ENST00000221486 (MANE Select)
0.547
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12813438G>T , CM000681.2:g.12813438G>T | GRCh38 |
| NC_000019.9:g.12924252G>T , CM000681.1:g.12924252G>T | GRCh37 |
| NC_000019.8:g.12785252G>T | NCBI36 |
| NG_012662.1:g.11825G>T , LRG_278:g.11825G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221486.6:c.872G>T (RNASEH2A) MANE Select | ENSP00000221486.4:p.Arg291Leu | |
| ENST00000593017.2:n.1158G>T (RNASEH2A) | ||
| ENST00000639767.2:c.*751G>T (THSD8) | ENSP00000491410.2:n.*751G>T | |
| ENST00000643757.1:n.907G>T (RNASEH2A) | ||
| ENST00000221486.4:c.872G>T (RNASEH2A) | ENSP00000221486.3:p.Arg291Leu | |
| ENST00000589765.1:n.41+11740C>A (HOOK2) | ||
| ENST00000593017.1:n.1287G>T (RNASEH2A) | ||
| NM_006397.2:c.872G>T , LRG_278t1:c.872G>T (RNASEH2A) | NP_006388.2:p.Arg291Leu | |
| XM_006722619.2:c.740G>T (RNASEH2A) | XP_006722682.1:p.Arg247Leu | |
| NM_006397.3:c.872G>T (RNASEH2A) MANE Select | NP_006388.2:p.Arg291Leu |