gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.65765712 (MID)
Genomes Max Group AF
0.65334907 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.92776002C>A , CM000666.2:g.92776002C>A | GRCh38 |
| NC_000004.11:g.93697153C>A , CM000666.1:g.93697153C>A | GRCh37 |
| NC_000004.10:g.93916176C>A | NCBI36 |
| NG_034113.1:g.476604C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282020.9:c.244+185716C>A MANE Select | ENSP00000282020.4:n.244+185716C>A | |
| ENST00000282020.8:c.244+185716C>A | ENSP00000282020.4:n.244+185716C>A | |
| ENST00000505687.5:n.416+185716C>A | ||
| ENST00000510992.5:c.244+185716C>A | ENSP00000421257.1:n.244+185716C>A | |
| NM_001286838.1:c.244+185716C>A | NP_001273767.1:n.244+185716C>A | |
| NM_001510.3:c.244+185716C>A | NP_001501.2:n.244+185716C>A | |
| XM_017008122.2:c.244+185716C>A | XP_016863611.1:n.244+185716C>A | |
| XM_024454024.1:c.244+185716C>A | XP_024309792.1:n.244+185716C>A | |
| NM_001510.4:c.244+185716C>A MANE Select | NP_001501.2:n.244+185716C>A |