gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102797291C>G , CM000673.2:g.102797291C>G | GRCh38 |
| NC_000011.9:g.102668022C>G , CM000673.1:g.102668022C>G | GRCh37 |
| NC_000011.8:g.102173232C>G | NCBI36 |
| NG_011740.1:g.5945G>C | |
| NG_011740.2:g.5945G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315274.7:c.315G>C (MMP1) MANE Select | ENSP00000322788.6:p.Gly105= | |
| ENST00000315274.6:c.315G>C (MMP1) | ENSP00000322788.6:p.Gly105= | |
| ENST00000371455.7:n.325-733C>G (WTAPP1) | ||
| ENST00000525739.6:n.584-733C>G (WTAPP1) | ||
| ENST00000544704.1:n.345-733C>G (WTAPP1) | ||
| NM_001145938.1:c.117G>C (MMP1) | NP_001139410.1:p.Gly39= | |
| NM_002421.3:c.315G>C (MMP1) | NP_002412.1:p.Gly105= | |
| NR_038390.1:n.584-733C>G (WTAPP1) | ||
| NM_002421.4:c.315G>C (MMP1) MANE Select | NP_002412.1:p.Gly105= | |
| NM_001145938.2:c.117G>C (MMP1) | NP_001139410.1:p.Gly39= |