Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102609943T>C , CM000673.2:g.102609943T>C | GRCh38 |
| NC_000011.9:g.102480674T>C , CM000673.1:g.102480674T>C | GRCh37 |
| NC_000011.8:g.101985884T>C | NCBI36 |
| NG_012151.1:g.20390A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004771.4:c.611A>G (MMP20) MANE Select | NP_004762.2:p.His204Arg |
| ENST00000260228.3:c.611A>G (MMP20) MANE Select | ENSP00000260228.2:p.His204Arg |
| NM_004771.3:c.611A>G (MMP20) | NP_004762.2:p.His204Arg |
| ENST00000260228.2:c.611A>G (MMP20) | ENSP00000260228.2:p.His204Arg |
| XR_001748340.1:n.1444+2491T>C (MMP20-AS1) | |
| XR_947956.1:n.700+2491T>C |