dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.78813445 (SAS)
Genomes Max Group AF
0.78813445 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.134225547G>A , CM000668.2:g.134225547G>A | GRCh38 |
| NC_000006.11:g.134546685G>A , CM000668.1:g.134546685G>A | GRCh37 |
| NC_000006.10:g.134588378G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367858.10:c.286-18116C>T MANE Select | ENSP00000356832.5:n.286-18116C>T | |
| ENST00000367858.9:c.286-18116C>T | ENSP00000356832.5:n.286-18116C>T | |
| ENST00000460769.1:c.128-10454C>T | ||
| ENST00000461976.2:c.193-18116C>T | ENSP00000435577.1:n.193-18116C>T | |
| ENST00000484353.1:n.86-18116C>T | ||
| ENST00000485771.1:n.82+4853C>T | ||
| ENST00000524387.5:n.68+4853C>T | ||
| ENST00000531575.5:n.86-18116C>T | ||
| NM_001143676.1:c.286-18116C>T | NP_001137148.1:n.286-18116C>T | |
| XM_011536071.1:c.286-18116C>T | XP_011534373.1:n.286-18116C>T | |
| XR_001744360.2:n.343+4853C>T | ||
| NM_001143676.3:c.286-18116C>T MANE Select | NP_001137148.1:n.286-18116C>T |