Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102789900A>G , CM000673.2:g.102789900A>G | GRCh38 |
| NC_000011.9:g.102660631A>G , CM000673.1:g.102660631A>G | GRCh37 |
| NC_000011.8:g.102165841A>G | NCBI36 |
| NG_011740.1:g.13336T>C | |
| NG_011740.2:g.13336T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000680179.1:n.1100T>C (MMP1) | ||
| ENST00000681445.1:n.1096T>C (MMP1) | ||
| ENST00000681643.1:n.1122T>C (MMP1) | ||
| ENST00000371455.7:n.325-8124A>G (WTAPP1) | ||
| ENST00000525739.6:n.390-3245A>G (WTAPP1) | ||
| ENST00000544704.1:n.344+5836A>G (WTAPP1) | ||
| NR_038390.1:n.390-3245A>G (WTAPP1) |