gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.26535638 (SAS)
Genomes Max Group AF
0.26535638 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.111072481C>A , CM000667.2:g.111072481C>A | GRCh38 |
| NC_000005.9:g.110408179C>A , CM000667.1:g.110408179C>A | GRCh37 |
| NC_000005.8:g.110436078C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344895.4:c.172-407C>A MANE Select | ENSP00000339804.3:n.172-407C>A | |
| ENST00000344895.3:c.172-407C>A | ENSP00000339804.3:n.172-407C>A | |
| ENST00000420978.6:c.172-407C>A | ENSP00000399099.2:n.172-407C>A | |
| NM_033035.4:c.172-407C>A | NP_149024.1:n.172-407C>A | |
| NR_045089.1:n.1576-407C>A | ||
| NM_033035.5:c.172-407C>A MANE Select | NP_149024.1:n.172-407C>A | |
| NR_045089.2:n.1594-407C>A |