Linked Data
ClinVar Variation Id:
403090
ClinVar RCV Id:
RCV000454837
dbSNP Id:
rs1144391
ExAC:
11:102663482 A / T
gnomAD v2:
11-102663482-A-T
gnomAD v3:
11-102792751-A-T
gnomAD v4:
11-102792751-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102792751A>T , CM000673.2:g.102792751A>T | GRCh38 |
| NC_000011.9:g.102663482A>T , CM000673.1:g.102663482A>T | GRCh37 |
| NC_000011.8:g.102168692A>T | NCBI36 |
| NG_011740.1:g.10485T>A | |
| NG_011740.2:g.10485T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315274.7:c.900-13T>A (MMP1) MANE Select | ENSP00000322788.6:n.900-13T>A | |
| ENST00000680179.1:n.78-13T>A (MMP1) | ||
| ENST00000681445.1:n.74-13T>A (MMP1) | ||
| ENST00000681643.1:n.87T>A (MMP1) | ||
| ENST00000315274.6:c.900-13T>A (MMP1) | ENSP00000322788.6:n.900-13T>A | |
| ENST00000371455.7:n.325-5273A>T (WTAPP1) | ||
| ENST00000525739.6:n.390-394A>T (WTAPP1) | ||
| ENST00000544704.1:n.345-5273A>T (WTAPP1) | ||
| NM_001145938.1:c.702-13T>A (MMP1) | NP_001139410.1:n.702-13T>A | |
| NM_002421.3:c.900-13T>A (MMP1) | NP_002412.1:n.900-13T>A | |
| NR_038390.1:n.390-394A>T (WTAPP1) | ||
| NM_002421.4:c.900-13T>A (MMP1) MANE Select | NP_002412.1:n.900-13T>A | |
| NM_001145938.2:c.702-13T>A (MMP1) | NP_001139410.1:n.702-13T>A |