Linked Data
dbSNP Id:
rs1555322
gnomAD v2:
20-33849179-G-A
gnomAD v3:
20-35261376-G-A
gnomAD v4:
20-35261376-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.35261376G>A , CM000682.2:g.35261376G>A | GRCh38 |
| NC_000020.10:g.33849179G>A , CM000682.1:g.33849179G>A | GRCh37 |
| NC_000020.9:g.33312595G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000246186.8:c.818-2415G>A (MMP24) MANE Select | ENSP00000246186.6:n.818-2415G>A | |
| ENST00000246186.7:c.818-2415G>A (MMP24) | ENSP00000246186.6:n.818-2415G>A | |
| ENST00000433764.5:n.221+10629C>T (MMP24OS) | ||
| ENST00000438751.5:n.237+10629C>T (MMP24OS) | ||
| ENST00000453892.1:n.53-4970C>T (MMP24OS) | ||
| ENST00000454184.5:n.227+10629C>T (MMP24OS) | ||
| ENST00000456350.5:n.236+10629C>T (MMP24OS) | ||
| ENST00000566203.6:n.255+10629C>T (MMP24OS) | ||
| ENST00000635104.1:n.197+10629C>T (MMP24OS) | ||
| NM_006690.3:c.818-2415G>A (MMP24) | NP_006681.1:n.818-2415G>A | |
| XM_011528500.1:c.818-2415G>A (MMP24) | XP_011526802.1:n.818-2415G>A | |
| NM_001355008.1:c.-463+10629C>T | NP_001341937.1:n.-463+10629C>T | |
| XM_011528500.2:c.818-2415G>A (MMP24) | XP_011526802.1:n.818-2415G>A | |
| XM_017027597.1:c.818-5829G>A (MMP24) | XP_016883086.1:n.818-5829G>A | |
| XM_017027598.1:c.725-2415G>A (MMP24) | XP_016883087.1:n.725-2415G>A | |
| NM_006690.4:c.818-2415G>A (MMP24) MANE Select | NP_006681.1:n.818-2415G>A | |
| NM_001355008.2:c.-463+10629C>T | NP_001341937.1:n.-463+10629C>T |