Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102611863C>T , CM000673.2:g.102611863C>T | GRCh38 |
| NC_000011.9:g.102482594C>T , CM000673.1:g.102482594C>T | GRCh37 |
| NC_000011.8:g.101987804C>T | NCBI36 |
| NG_012151.1:g.18470G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004771.4:c.415G>A (MMP20) MANE Select | NP_004762.2:p.Asp139Asn |
| ENST00000260228.3:c.415G>A (MMP20) MANE Select | ENSP00000260228.2:p.Asp139Asn |
| NM_004771.3:c.415G>A (MMP20) | NP_004762.2:p.Asp139Asn |
| ENST00000260228.2:c.415G>A (MMP20) | ENSP00000260228.2:p.Asp139Asn |
| XR_001748340.1:n.1444+4411C>T (MMP20-AS1) | |
| XR_947956.1:n.700+4411C>T |