gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.46704292 (AFR)
Genomes Max Group AF
0.46704292 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112907271C>T , CM000667.2:g.112907271C>T | GRCh38 |
| NC_000005.9:g.112242968C>T , CM000667.1:g.112242968C>T | GRCh37 |
| NC_000005.8:g.112270867C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379638.9:c.213-4753G>A MANE Select | ENSP00000368959.4:n.213-4753G>A | |
| ENST00000261482.8:c.186-4753G>A | ENSP00000261482.4:n.186-4753G>A | |
| ENST00000379638.8:c.213-4753G>A | ENSP00000368959.4:n.213-4753G>A | |
| ENST00000474542.2:n.343-4753G>A | ||
| ENST00000497856.6:n.353-4753G>A | ||
| ENST00000504247.1:c.212+13892G>A | ENSP00000421881.1:n.212+13892G>A | |
| ENST00000511865.6:c.253-4753G>A | ||
| ENST00000513339.5:c.213-4753G>A | ENSP00000425901.1:n.213-4753G>A | |
| NM_005669.4:c.213-4753G>A | NP_005660.4:n.213-4753G>A | |
| XM_017009844.2:c.213-4753G>A | XP_016865333.1:n.213-4753G>A | |
| NM_005669.5:c.213-4753G>A MANE Select | NP_005660.4:n.213-4753G>A |