gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.76309378 (AFR)
Genomes Max Group AF
0.76309378 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.216028914T>G , CM000664.2:g.216028914T>G | GRCh38 |
| NC_000002.11:g.216893637T>G , CM000664.1:g.216893637T>G | GRCh37 |
| NC_000002.10:g.216601882T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420348.1:c.-68+3875A>C (MREG) | ENSP00000404470.1:n.-68+3875A>C | |
| ENST00000424992.5:c.-68+5048A>C (MREG) | ENSP00000413302.1:n.-68+5048A>C | |
| ENST00000439791.5:c.-68+4769A>C (MREG) | ENSP00000411076.1:n.-68+4769A>C | |
| ENST00000442122.5:c.*440+10277A>C (PECR) | ENSP00000395512.1:n.*440+10277A>C | |
| NM_001372189.1:c.-68+5048A>C (MREG) | NP_001359118.1:n.-68+5048A>C | |
| NM_001372190.1:c.-68+4769A>C (MREG) | NP_001359119.1:n.-68+4769A>C |