gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.75717431 (AFR)
Genomes Max Group AF
0.75717431 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.146792514A>T , CM000669.2:g.146792514A>T | GRCh38 |
| NC_000007.13:g.146489606A>T , CM000669.1:g.146489606A>T | GRCh37 |
| NC_000007.12:g.146120539A>T | NCBI36 |
| NG_007092.2:g.681154A>T | |
| NG_007092.3:g.681514A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361727.8:c.208+18133A>T MANE Select | ENSP00000354778.3:n.208+18133A>T | |
| ENST00000636561.1:n.111+18133A>T | ||
| ENST00000637150.1:n.137+18133A>T | ||
| ENST00000637694.1:n.111+18133A>T | ||
| ENST00000638117.1:n.111+18133A>T | ||
| ENST00000361727.7:c.208+18133A>T | ENSP00000354778.3:n.208+18133A>T | |
| ENST00000625365.2:c.208+18133A>T | ENSP00000485955.1:n.208+18133A>T | |
| NM_014141.5:c.208+18133A>T | NP_054860.1:n.208+18133A>T | |
| XM_017011950.2:c.208+18133A>T | XP_016867439.1:n.208+18133A>T | |
| NM_014141.6:c.208+18133A>T MANE Select | NP_054860.1:n.208+18133A>T |