gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00013055 (AFR)
Genomes Max Group AF
0.00013056 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.94493959C>G , CM000673.2:g.94493959C>G | GRCh38 |
| NC_000011.9:g.94227125C>G , CM000673.1:g.94227125C>G | GRCh37 |
| NC_000011.8:g.93866773C>G | NCBI36 |
| NG_007261.1:g.4916G>C , LRG_85:g.4916G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000544612.5:c.-167C>G (ANKRD49) | ENSP00000440396.1:n.-167C>G | |
| XM_011542837.1:c.-105-1053G>C (MRE11) | XP_011541139.1:n.-105-1053G>C | |
| XM_011542837.2:c.-105-1053G>C (MRE11) | XP_011541139.1:n.-105-1053G>C |