gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000718 (AFR)
Genomes Max Group AF
0.00000797 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99352974T>G , CM000666.2:g.99352974T>G | GRCh38 |
| NC_000004.11:g.100274131T>G , CM000666.1:g.100274131T>G | GRCh37 |
| NC_000004.10:g.100493154T>G | NCBI36 |
| NG_011718.1:g.4787A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000515683.5:c.-299A>C | ENSP00000426083.1:n.-299A>C | |
| NM_000669.4:c.-299A>C | NP_000660.1:n.-299A>C | |
| NR_133005.1:n.72A>C | ||
| XM_011531588.1:c.-299A>C | XP_011529890.1:n.-299A>C | |
| XM_011531589.1:c.-539A>C | XP_011529891.1:n.-539A>C |