gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.55330799 (AFR)
Genomes Max Group AF
0.55330799 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16066862T>G , CM000663.2:g.16066862T>G | GRCh38 |
| NC_000001.10:g.16393357T>G , CM000663.1:g.16393357T>G | GRCh37 |
| NC_000001.9:g.16265944T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375662.5:c.23-3226A>C MANE Select | ENSP00000364814.4:n.23-3226A>C | |
| ENST00000375662.4:c.23-3226A>C | ENSP00000364814.4:n.23-3226A>C | |
| ENST00000494078.1:n.213-4328A>C | ||
| NM_182623.2:c.23-3226A>C | NP_872429.2:n.23-3226A>C | |
| NM_182623.3:c.23-3226A>C MANE Select | NP_872429.2:n.23-3226A>C |