gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.26638002 (AFR)
Genomes Max Group AF
0.26638002 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.92972141C>T , CM000673.2:g.92972141C>T | GRCh38 |
| NC_000011.9:g.92705307C>T , CM000673.1:g.92705307C>T | GRCh37 |
| NC_000011.8:g.92344955C>T | NCBI36 |
| NG_028160.1:g.7519C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257068.3:c.223+2193C>T MANE Select | ENSP00000257068.2:n.223+2193C>T | |
| ENST00000257068.2:c.223+2193C>T | ENSP00000257068.2:n.223+2193C>T | |
| ENST00000528076.1:c.165+2193C>T | ||
| ENST00000532482.1:c.224-320C>T | ENSP00000436101.1:n.224-320C>T | |
| NM_005959.3:c.223+2193C>T | NP_005950.1:n.223+2193C>T | |
| XM_011542839.1:c.223+2193C>T | XP_011541141.1:n.223+2193C>T | |
| XM_011542839.2:c.223+2193C>T | XP_011541141.1:n.223+2193C>T | |
| NM_005959.5:c.223+2193C>T MANE Select | NP_005950.1:n.223+2193C>T |