gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.76427762 (AFR)
Genomes Max Group AF
0.75907959 (AFR)
Exomes Max Group AF
0.7692327 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.42753056G>C , CM000670.2:g.42753056G>C | GRCh38 |
| NC_000008.10:g.42608199G>C , CM000670.1:g.42608199G>C | GRCh37 |
| NC_000008.9:g.42727356G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276410.7:c.*123C>G MANE Select | ENSP00000276410.3:n.*123C>G | |
| ENST00000276410.6:c.*123C>G | ENSP00000276410.2:n.*123C>G | |
| ENST00000534622.5:c.*123C>G | ENSP00000433871.1:n.*123C>G | |
| NM_001199279.1:c.*123C>G | NP_001186208.1:n.*123C>G | |
| NM_004198.3:c.*123C>G MANE Select | NP_004189.1:n.*123C>G |