Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102798194T>C , CM000673.2:g.102798194T>C | GRCh38 |
| NC_000011.9:g.102668925T>C , CM000673.1:g.102668925T>C | GRCh37 |
| NC_000011.8:g.102174135T>C | NCBI36 |
| NG_011740.1:g.5042A>G | |
| NG_011740.2:g.5042A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371455.7:n.423+72T>C (WTAPP1) | ||
| ENST00000525739.6:n.682+72T>C (WTAPP1) | ||
| ENST00000544704.1:n.443+72T>C (WTAPP1) | ||
| NM_001145938.1:c.-148A>G (MMP1) | NP_001139410.1:n.-148A>G | |
| NM_002421.3:c.-102A>G (MMP1) | NP_002412.1:n.-102A>G | |
| NR_038390.1:n.682+72T>C (WTAPP1) |