gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000801 (AFR)
Genomes Max Group AF
0.00000801 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120978349A>C , CM000674.2:g.120978349A>C | GRCh38 |
| NC_000012.11:g.121416152A>C , CM000674.1:g.121416152A>C | GRCh37 |
| NC_000012.10:g.119900535A>C | NCBI36 |
| NG_011731.2:g.4604A>C , LRG_522:g.4604A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_005253931.2:c.-420A>C | XP_005253988.1:n.-420A>C | |
| XM_024449168.1:c.-420A>C | XP_024304936.1:n.-420A>C |