gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.45853883 (NFE)
Genomes Max Group AF
0.45853883 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.96202427C>A , CM000675.2:g.96202427C>A | GRCh38 |
| NC_000013.10:g.96854681C>A , CM000675.1:g.96854681C>A | GRCh37 |
| NC_000013.9:g.95652682C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376705.4:c.707+110858C>A MANE Select | ENSP00000365895.2:n.707+110858C>A | |
| ENST00000376705.3:c.707+110858C>A | ENSP00000365895.2:n.707+110858C>A | |
| NM_153456.3:c.707+110858C>A | NP_703157.2:n.707+110858C>A | |
| XM_011521073.1:c.707+110858C>A | XP_011519375.1:n.707+110858C>A | |
| XM_011521074.1:c.708-40229C>A | XP_011519376.1:n.708-40229C>A | |
| XM_011521076.1:c.707+110858C>A | XP_011519378.1:n.707+110858C>A | |
| XM_011521076.2:c.707+110858C>A | XP_011519378.1:n.707+110858C>A | |
| XM_017020543.2:c.707+110858C>A | XP_016876032.1:n.707+110858C>A | |
| NM_153456.4:c.707+110858C>A MANE Select | NP_703157.2:n.707+110858C>A |