gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.33943728 (MID)
Genomes Max Group AF
0.33866088 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.41374150G>T , CM000663.2:g.41374150G>T | GRCh38 |
| NC_000001.10:g.41839822G>T , CM000663.1:g.41839822G>T | GRCh37 |
| NC_000001.9:g.41612409G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641094.2:c.415-7466G>T | ENSP00000493184.1:n.415-7466G>T | |
| ENST00000686812.1:c.30+7375G>T | ENSP00000509631.1:n.30+7375G>T | |
| ENST00000641094.1:c.415-7466G>T | ENSP00000493184.1:n.415-7466G>T | |
| ENST00000372591.1:c.415-7466G>T | ENSP00000361672.1:n.415-7466G>T | |
| ENST00000615371.1:c.415-7466G>T | ENSP00000484727.1:n.415-7466G>T | |
| NM_001291281.1:c.415-7466G>T | NP_001278210.1:n.415-7466G>T | |
| NM_001291281.2:c.415-7466G>T | NP_001278210.2:n.415-7466G>T | |
| NM_001291281.3:c.415-7466G>T MANE Select | NP_001278210.2:n.415-7466G>T |