gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.75577689 (AFR)
Genomes Max Group AF
0.75577689 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.35211477T>G , CM000682.2:g.35211477T>G | GRCh38 |
| NC_000020.10:g.33799280T>G , CM000682.1:g.33799280T>G | GRCh37 |
| NC_000020.9:g.33262941T>G | NCBI36 |
| NG_032899.2:g.44507T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634509.1:c.95-4416T>G (PROCR) | ENSP00000489456.1:n.95-4416T>G | |
| ENST00000635104.1:n.571+5271A>C (MMP24OS) | ||
| ENST00000635377.1:c.631-4416T>G (PROCR) | ||
| XM_011528496.1:c.602-4416T>G (PROCR) | XP_011526798.1:n.602-4416T>G | |
| NM_001355008.1:c.-102+6335A>C | NP_001341937.1:n.-102+6335A>C | |
| NM_001355008.2:c.-102+6335A>C | NP_001341937.1:n.-102+6335A>C |