gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.48044515 (AFR)
Genomes Max Group AF
0.48044515 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.97040342G>A , CM000672.2:g.97040342G>A | GRCh38 |
| NC_000010.10:g.98800099G>A , CM000672.1:g.98800099G>A | GRCh37 |
| NC_000010.9:g.98790089G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266058.9:c.2165-222C>T MANE Select | ENSP00000266058.4:n.2165-222C>T | |
| ENST00000266058.8:c.2165-222C>T | ENSP00000266058.4:n.2165-222C>T | |
| ENST00000314867.9:c.2144-222C>T | ENSP00000315005.5:n.2144-222C>T | |
| ENST00000371070.8:c.2165-222C>T | ENSP00000360109.4:n.2165-222C>T | |
| NM_003061.2:c.2165-222C>T | NP_003052.2:n.2165-222C>T | |
| NM_003061.3:c.2165-222C>T MANE Select | NP_003052.2:n.2165-222C>T |