gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.6289725 (SAS)
Genomes Max Group AF
0.6289725 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119039143G>A , CM000672.2:g.119039143G>A | GRCh38 |
| NC_000010.10:g.120798655G>A , CM000672.1:g.120798655G>A | GRCh37 |
| NC_000010.9:g.120788645G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369144.8:c.3527-704C>T MANE Select | ENSP00000358140.3:n.3527-704C>T | |
| ENST00000369144.7:c.3527-704C>T | ENSP00000358140.3:n.3527-704C>T | |
| ENST00000541549.2:c.3527-704C>T | ENSP00000438178.2:n.3527-704C>T | |
| NM_003750.2:c.3527-704C>T | NP_003741.1:n.3527-704C>T | |
| NM_003750.3:c.3527-704C>T | NP_003741.1:n.3527-704C>T | |
| NM_003750.4:c.3527-704C>T MANE Select | NP_003741.1:n.3527-704C>T |