gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001915 (AFR)
Genomes Max Group AF
0.00001915 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.60192641G>A , CM000670.2:g.60192641G>A | GRCh38 |
| NC_000008.10:g.61105200G>A , CM000670.1:g.61105200G>A | GRCh37 |
| NC_000008.9:g.61267754G>A | NCBI36 |
| NG_023193.1:g.93755C>T | |
| NG_023193.2:g.93755C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317995.5:c.*36-2656C>T MANE Select | ENSP00000314407.4:n.*36-2656C>T | |
| ENST00000317995.4:c.*36-2656C>T | ENSP00000314407.4:n.*36-2656C>T | |
| NM_004056.4:c.*36-2656C>T | NP_004047.3:n.*36-2656C>T | |
| XM_011517586.1:c.*36-2656C>T | XP_011515888.1:n.*36-2656C>T | |
| NM_001321839.1:c.*36-2656C>T | NP_001308768.1:n.*36-2656C>T | |
| NM_004056.5:c.*36-2656C>T | NP_004047.3:n.*36-2656C>T | |
| NR_135821.1:n.1235-2656C>T | ||
| XM_017013818.1:c.*36-2656C>T | XP_016869307.1:n.*36-2656C>T | |
| NM_004056.6:c.*36-2656C>T MANE Select | NP_004047.3:n.*36-2656C>T | |
| NM_001321839.2:c.*36-2656C>T | NP_001308768.1:n.*36-2656C>T | |
| NR_135821.2:n.1212-2656C>T |