gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.86150431 (EAS)
Genomes Max Group AF
0.86150431 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102794539T>C , CM000673.2:g.102794539T>C | GRCh38 |
| NC_000011.9:g.102665270T>C , CM000673.1:g.102665270T>C | GRCh37 |
| NC_000011.8:g.102170480T>C | NCBI36 |
| NG_011740.1:g.8697A>G | |
| NG_011740.2:g.8697A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315274.7:c.899+635A>G (MMP1) MANE Select | ENSP00000322788.6:n.899+635A>G | |
| ENST00000315274.6:c.899+635A>G (MMP1) | ENSP00000322788.6:n.899+635A>G | |
| ENST00000371455.7:n.325-3485T>C (WTAPP1) | ||
| ENST00000525739.6:n.507-609T>C (WTAPP1) | ||
| ENST00000544704.1:n.345-3485T>C (WTAPP1) | ||
| NM_001145938.1:c.701+635A>G (MMP1) | NP_001139410.1:n.701+635A>G | |
| NM_002421.3:c.899+635A>G (MMP1) | NP_002412.1:n.899+635A>G | |
| NR_038390.1:n.507-609T>C (WTAPP1) | ||
| NM_002421.4:c.899+635A>G (MMP1) MANE Select | NP_002412.1:n.899+635A>G | |
| NM_001145938.2:c.701+635A>G (MMP1) | NP_001139410.1:n.701+635A>G |