gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.13627285 (NFE)
Genomes Max Group AF
0.13627285 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.58786896C>T , CM000667.2:g.58786896C>T | GRCh38 |
| NC_000005.9:g.58082723C>T , CM000667.1:g.58082723C>T | GRCh37 |
| NC_000005.8:g.58118480C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282878.6:c.372-38142C>T MANE Select | ENSP00000282878.4:n.372-38142C>T | |
| ENST00000282878.5:c.372-38142C>T | ENSP00000282878.4:n.372-38142C>T | |
| ENST00000507977.1:n.349-7394C>T | ||
| NM_138453.2:c.372-38142C>T | NP_612462.1:n.372-38142C>T | |
| XM_005248418.3:c.366-38142C>T | XP_005248475.1:n.366-38142C>T | |
| NM_001317915.1:c.366-38142C>T | NP_001304844.1:n.366-38142C>T | |
| NM_138453.3:c.372-38142C>T | NP_612462.1:n.372-38142C>T | |
| NM_138453.4:c.372-38142C>T MANE Select | NP_612462.1:n.372-38142C>T | |
| NM_001317915.2:c.366-38142C>T | NP_001304844.1:n.366-38142C>T |