gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.60779516 (AFR)
Genomes Max Group AF
0.60779516 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.60237172C>T , CM000670.2:g.60237172C>T | GRCh38 |
| NC_000008.10:g.61149731C>T , CM000670.1:g.61149731C>T | GRCh37 |
| NC_000008.9:g.61312285C>T | NCBI36 |
| NG_023193.1:g.49224G>A | |
| NG_023193.2:g.49224G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317995.5:c.418-4793G>A MANE Select | ENSP00000314407.4:n.418-4793G>A | |
| ENST00000317995.4:c.418-4793G>A | ENSP00000314407.4:n.418-4793G>A | |
| ENST00000524872.5:n.656-4793G>A | ||
| NM_004056.4:c.418-4793G>A | NP_004047.3:n.418-4793G>A | |
| XM_011517585.1:c.418-4793G>A | XP_011515887.1:n.418-4793G>A | |
| XM_011517586.1:c.418-10237G>A | XP_011515888.1:n.418-10237G>A | |
| NM_001321837.1:c.418-4793G>A | NP_001308766.1:n.418-4793G>A | |
| NM_001321838.1:c.418-4793G>A | NP_001308767.1:n.418-4793G>A | |
| NM_001321839.1:c.418-10237G>A | NP_001308768.1:n.418-10237G>A | |
| NM_004056.5:c.418-4793G>A | NP_004047.3:n.418-4793G>A | |
| NR_135821.1:n.694-4793G>A | ||
| XM_017013818.1:c.166-4793G>A | XP_016869307.1:n.166-4793G>A | |
| NM_004056.6:c.418-4793G>A MANE Select | NP_004047.3:n.418-4793G>A | |
| NM_001321837.2:c.418-4793G>A | NP_001308766.1:n.418-4793G>A | |
| NM_001321838.2:c.418-4793G>A | NP_001308767.1:n.418-4793G>A | |
| NM_001321839.2:c.418-10237G>A | NP_001308768.1:n.418-10237G>A | |
| NR_135821.2:n.671-4793G>A |