Linked Data
dbSNP Id:
rs899139017
gnomAD v2:
11-102660919-A-G
gnomAD v3:
11-102790188-A-G
gnomAD v4:
11-102790188-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102790188A>G , CM000673.2:g.102790188A>G | GRCh38 |
| NC_000011.9:g.102660919A>G , CM000673.1:g.102660919A>G | GRCh37 |
| NC_000011.8:g.102166129A>G | NCBI36 |
| NG_011740.1:g.13048T>C | |
| NG_011740.2:g.13048T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315274.7:c.*224T>C (MMP1) MANE Select | ENSP00000322788.6:n.*224T>C | |
| ENST00000680179.1:n.812T>C (MMP1) | ||
| ENST00000681445.1:n.808T>C (MMP1) | ||
| ENST00000681643.1:n.834T>C (MMP1) | ||
| ENST00000315274.6:c.*224T>C (MMP1) | ENSP00000322788.6:n.*224T>C | |
| ENST00000371455.7:n.325-7836A>G (WTAPP1) | ||
| ENST00000525739.6:n.390-2957A>G (WTAPP1) | ||
| ENST00000544704.1:n.344+6124A>G (WTAPP1) | ||
| NM_001145938.1:c.*224T>C (MMP1) | NP_001139410.1:n.*224T>C | |
| NM_002421.3:c.*224T>C (MMP1) | NP_002412.1:n.*224T>C | |
| NR_038390.1:n.390-2957A>G (WTAPP1) | ||
| NM_002421.4:c.*224T>C (MMP1) MANE Select | NP_002412.1:n.*224T>C | |
| NM_001145938.2:c.*224T>C (MMP1) | NP_001139410.1:n.*224T>C |