Linked Data
dbSNP Id:
rs796985308
gnomAD v2:
11-102660627-C-T
gnomAD v3:
11-102789896-C-T
gnomAD v4:
11-102789896-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102789896C>T , CM000673.2:g.102789896C>T | GRCh38 |
| NC_000011.9:g.102660627C>T , CM000673.1:g.102660627C>T | GRCh37 |
| NC_000011.8:g.102165837C>T | NCBI36 |
| NG_011740.1:g.13340G>A | |
| NG_011740.2:g.13340G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000680179.1:n.1104G>A (MMP1) | ||
| ENST00000681445.1:n.1100G>A (MMP1) | ||
| ENST00000681643.1:n.1126G>A (MMP1) | ||
| ENST00000371455.7:n.325-8128C>T (WTAPP1) | ||
| ENST00000525739.6:n.390-3249C>T (WTAPP1) | ||
| ENST00000544704.1:n.344+5832C>T (WTAPP1) | ||
| NR_038390.1:n.390-3249C>T (WTAPP1) |