gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.46934217 (EAS)
Genomes Max Group AF
0.51915886 (EAS)
Exomes Max Group AF
0.45917407 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102790934G>A , CM000673.2:g.102790934G>A | GRCh38 |
| NC_000011.9:g.102661665G>A , CM000673.1:g.102661665G>A | GRCh37 |
| NC_000011.8:g.102166875G>A | NCBI36 |
| NG_011740.1:g.12302C>T | |
| NG_011740.2:g.12302C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315274.7:c.1197-128C>T (MMP1) MANE Select | ENSP00000322788.6:n.1197-128C>T | |
| ENST00000680179.1:n.375-128C>T (MMP1) | ||
| ENST00000681445.1:n.371-128C>T (MMP1) | ||
| ENST00000681643.1:n.397-128C>T (MMP1) | ||
| ENST00000315274.6:c.1197-128C>T (MMP1) | ENSP00000322788.6:n.1197-128C>T | |
| ENST00000371455.7:n.325-7090G>A (WTAPP1) | ||
| ENST00000525739.6:n.390-2211G>A (WTAPP1) | ||
| ENST00000544704.1:n.344+6870G>A (WTAPP1) | ||
| NM_001145938.1:c.999-128C>T (MMP1) | NP_001139410.1:n.999-128C>T | |
| NM_002421.3:c.1197-128C>T (MMP1) | NP_002412.1:n.1197-128C>T | |
| NR_038390.1:n.390-2211G>A (WTAPP1) | ||
| NM_002421.4:c.1197-128C>T (MMP1) MANE Select | NP_002412.1:n.1197-128C>T | |
| NM_001145938.2:c.999-128C>T (MMP1) | NP_001139410.1:n.999-128C>T |