gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.10597481 (NFE)
Genomes Max Group AF
0.10597481 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.33031085G>T , CM000671.2:g.33031085G>T | GRCh38 |
| NC_000009.11:g.33031083G>T , CM000671.1:g.33031083G>T | GRCh37 |
| NC_000009.10:g.33021083G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330899.5:c.643+418G>T MANE Select | ENSP00000369127.3:n.643+418G>T | |
| ENST00000330899.4:c.643+418G>T | ENSP00000369127.3:n.643+418G>T | |
| ENST00000495015.5:n.99-3131G>T | ||
| NM_001314039.1:c.172+418G>T | NP_001300968.1:n.172+418G>T | |
| NM_001539.2:c.643+418G>T | NP_001530.1:n.643+418G>T | |
| NM_001539.3:c.643+418G>T | NP_001530.1:n.643+418G>T | |
| NM_001539.4:c.643+418G>T MANE Select | NP_001530.1:n.643+418G>T | |
| NM_001314039.2:c.172+418G>T | NP_001300968.1:n.172+418G>T |