gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.27539013 (AFR)
Genomes Max Group AF
0.27508642 (AFR)
Exomes Max Group AF
0.26905322 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102790228A>G , CM000673.2:g.102790228A>G | GRCh38 |
| NC_000011.9:g.102660959A>G , CM000673.1:g.102660959A>G | GRCh37 |
| NC_000011.8:g.102166169A>G | NCBI36 |
| NG_011740.1:g.13008T>C | |
| NG_011740.2:g.13008T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315274.7:c.*184T>C (MMP1) MANE Select | ENSP00000322788.6:n.*184T>C | |
| ENST00000680179.1:n.772T>C (MMP1) | ||
| ENST00000681445.1:n.768T>C (MMP1) | ||
| ENST00000681643.1:n.794T>C (MMP1) | ||
| ENST00000315274.6:c.*184T>C (MMP1) | ENSP00000322788.6:n.*184T>C | |
| ENST00000371455.7:n.325-7796A>G (WTAPP1) | ||
| ENST00000525739.6:n.390-2917A>G (WTAPP1) | ||
| ENST00000544704.1:n.344+6164A>G (WTAPP1) | ||
| NM_001145938.1:c.*184T>C (MMP1) | NP_001139410.1:n.*184T>C | |
| NM_002421.3:c.*184T>C (MMP1) | NP_002412.1:n.*184T>C | |
| NR_038390.1:n.390-2917A>G (WTAPP1) | ||
| NM_002421.4:c.*184T>C (MMP1) MANE Select | NP_002412.1:n.*184T>C | |
| NM_001145938.2:c.*184T>C (MMP1) | NP_001139410.1:n.*184T>C |