Linked Data
ClinVar Variation Id:
2540595
ClinVar RCV Id:
RCV004313718
dbSNP Id:
rs762774407
ExAC:
11:4825138 C / A
gnomAD v2:
11-4825138-C-A
gnomAD v3:
11-4803908-C-A
gnomAD v4:
11-4803908-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.4803908C>A , CM000673.2:g.4803908C>A | GRCh38 |
| NC_000011.9:g.4825138C>A , CM000673.1:g.4825138C>A | GRCh37 |
| NC_000011.8:g.4781714C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300762.2:c.-153+36567C>A (MMP26) | ENSP00000300762.2:n.-153+36567C>A | |
| ENST00000380390.6:c.-145+36567C>A (MMP26) MANE Select | ENSP00000369753.1:n.-145+36567C>A | |
| ENST00000356069.2:c.473G>T | ENSP00000348368.2:p.Trp158Leu | |
| ENST00000380390.5:c.-145+36567C>A (MMP26) | ENSP00000369753.1:n.-145+36567C>A | |
| ENST00000477339.5:n.191+36567C>A (MMP26) | ||
| ENST00000624198.1:c.473G>T (OR52R1) | ENSP00000485549.1:p.Trp158Leu | |
| ENST00000624978.1:c.473G>T (OR52R1) MANE Select | ENSP00000485292.1:p.Trp158Leu | |
| NM_001005177.3:c.473G>T (OR52R1) MANE Select | NP_001005177.3:p.Trp158Leu | |
| NM_001384608.1:c.-153+36567C>A (MMP26) | NP_001371537.1:n.-153+36567C>A | |
| NM_021801.5:c.-145+36567C>A (MMP26) MANE Select | NP_068573.2:n.-145+36567C>A |