gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.40370153 (AFR)
Genomes Max Group AF
0.40370153 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32789189C>T , CM000682.2:g.32789189C>T | GRCh38 |
| NC_000020.10:g.31376995C>T , CM000682.1:g.31376995C>T | GRCh37 |
| NC_000020.9:g.30840656C>T | NCBI36 |
| NG_007290.1:g.31805C>T , LRG_56:g.31805C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696231.1:c.813+177C>T | ENSP00000512497.1:n.813+177C>T | |
| ENST00000696232.1:c.813+177C>T | ENSP00000512498.1:n.813+177C>T | |
| ENST00000696233.1:c.813+177C>T | ENSP00000512499.1:n.813+177C>T | |
| ENST00000696234.1:n.797+177C>T | ||
| ENST00000696235.1:c.687+177C>T | ENSP00000512500.1:n.687+177C>T | |
| ENST00000696236.1:c.687+177C>T | ENSP00000512501.1:n.687+177C>T | |
| ENST00000696238.1:c.813+177C>T | ENSP00000512502.1:n.813+177C>T | |
| ENST00000696239.1:c.654+1738C>T | ENSP00000512503.1:n.654+1738C>T | |
| ENST00000201963.3:c.849+177C>T | ENSP00000201963.3:n.849+177C>T | |
| ENST00000328111.6:c.813+177C>T MANE Select | ENSP00000328547.2:n.813+177C>T | |
| ENST00000348286.6:c.813+177C>T | ENSP00000337764.2:n.813+177C>T | |
| ENST00000353855.6:c.813+177C>T | ENSP00000313397.4:n.813+177C>T | |
| ENST00000443239.7:c.687+177C>T | ENSP00000403169.2:n.687+177C>T | |
| ENST00000456297.6:c.585+177C>T | ENSP00000412305.1:n.585+177C>T | |
| NM_001207055.1:c.687+177C>T | NP_001193984.1:n.687+177C>T | |
| NM_001207056.1:c.585+177C>T | NP_001193985.1:n.585+177C>T | |
| NM_006892.3:c.813+177C>T , LRG_56t1:c.813+177C>T | NP_008823.1:n.813+177C>T | |
| NM_175848.1:c.813+177C>T | NP_787044.1:n.813+177C>T | |
| NM_175849.1:c.813+177C>T | NP_787045.1:n.813+177C>T | |
| NM_175850.2:c.849+177C>T | NP_787046.1:n.849+177C>T | |
| XM_011528653.1:c.849+177C>T | XP_011526955.1:n.849+177C>T | |
| XM_011528654.1:c.723+177C>T | XP_011526956.1:n.723+177C>T | |
| XR_936510.1:n.985+177C>T | ||
| XR_936511.1:n.985+177C>T | ||
| XR_936512.1:n.860+177C>T | ||
| XM_011528653.2:c.849+177C>T | XP_011526955.1:n.849+177C>T | |
| XM_011528654.2:c.723+177C>T | XP_011526956.1:n.723+177C>T | |
| XR_936510.2:n.996+177C>T | ||
| XR_936511.2:n.996+177C>T | ||
| XR_936512.2:n.872+177C>T | ||
| NM_001207055.2:c.687+177C>T | NP_001193984.1:n.687+177C>T | |
| NM_001207056.2:c.585+177C>T | NP_001193985.1:n.585+177C>T | |
| NM_006892.4:c.813+177C>T MANE Select | NP_008823.1:n.813+177C>T | |
| NM_175848.2:c.813+177C>T | NP_787044.1:n.813+177C>T | |
| NM_175849.2:c.813+177C>T | NP_787045.1:n.813+177C>T | |
| NM_175850.3:c.849+177C>T | NP_787046.1:n.849+177C>T |