gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.37197737 (AFR)
Genomes Max Group AF
0.37197737 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56972678C>T , CM000678.2:g.56972678C>T | GRCh38 |
| NC_000016.9:g.57006590C>T , CM000678.1:g.57006590C>T | GRCh37 |
| NC_000016.8:g.55564091C>T | NCBI36 |
| NG_008952.1:g.15756C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000200676.8:c.750+595C>T MANE Select | ENSP00000200676.3:n.750+595C>T | |
| ENST00000200676.7:c.750+595C>T | ENSP00000200676.3:n.750+595C>T | |
| ENST00000379780.6:c.750+595C>T | ENSP00000369106.2:n.750+595C>T | |
| ENST00000566128.1:c.555+595C>T | ENSP00000456276.1:n.555+595C>T | |
| ENST00000569082.1:n.852+595C>T | ||
| NM_000078.2:c.750+595C>T | NP_000069.2:n.750+595C>T | |
| NM_001286085.1:c.750+595C>T | NP_001273014.1:n.750+595C>T | |
| XM_006721124.2:c.*459C>T | XP_006721187.1:n.*459C>T | |
| XM_006721124.3:c.*459C>T | XP_006721187.1:n.*459C>T | |
| NM_000078.3:c.750+595C>T MANE Select | NP_000069.2:n.750+595C>T | |
| NM_001286085.2:c.750+595C>T | NP_001273014.1:n.750+595C>T |