Linked Data
ClinVar Variation Id:
403092
dbSNP Id:
rs470558
ExAC:
11:102666316 T / C
gnomAD v2:
11-102666316-T-C
gnomAD v3:
11-102795585-T-C
gnomAD v4:
11-102795585-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102795585T>C , CM000673.2:g.102795585T>C | GRCh38 |
| NC_000011.9:g.102666316T>C , CM000673.1:g.102666316T>C | GRCh37 |
| NC_000011.8:g.102171526T>C | NCBI36 |
| NG_011740.1:g.7651A>G | |
| NG_011740.2:g.7651A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315274.7:c.648A>G (MMP1) MANE Select | ENSP00000322788.6:p.Ala216= | |
| ENST00000315274.6:c.648A>G (MMP1) | ENSP00000322788.6:p.Ala216= | |
| ENST00000371455.7:n.325-2439T>C (WTAPP1) | ||
| ENST00000525739.6:n.583+361T>C (WTAPP1) | ||
| ENST00000544704.1:n.345-2439T>C (WTAPP1) | ||
| NM_001145938.1:c.450A>G (MMP1) | NP_001139410.1:p.Ala150= | |
| NM_002421.3:c.648A>G (MMP1) | NP_002412.1:p.Ala216= | |
| NR_038390.1:n.583+361T>C (WTAPP1) | ||
| NM_002421.4:c.648A>G (MMP1) MANE Select | NP_002412.1:p.Ala216= | |
| NM_001145938.2:c.450A>G (MMP1) | NP_001139410.1:p.Ala150= |