Revel Score:
ENST00000260228 (MANE Select)
0.885
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102609070A>T , CM000673.2:g.102609070A>T | GRCh38 |
| NC_000011.9:g.102479801A>T , CM000673.1:g.102479801A>T | GRCh37 |
| NC_000011.8:g.101985011A>T | NCBI36 |
| NG_012151.1:g.21263T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260228.3:c.678T>A (MMP20) MANE Select | ENSP00000260228.2:p.His226Gln | |
| ENST00000260228.2:c.678T>A (MMP20) | ENSP00000260228.2:p.His226Gln | |
| NM_004771.3:c.678T>A (MMP20) | NP_004762.2:p.His226Gln | |
| XR_947956.1:n.700+1618A>T | ||
| XR_001748340.1:n.1444+1618A>T (MMP20-AS1) | ||
| NM_004771.4:c.678T>A (MMP20) MANE Select | NP_004762.2:p.His226Gln |