gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0010327 (AFR)
Genomes Max Group AF
0.00104388 (AFR)
Exomes Max Group AF
0.00072407 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102854989G>A , CM000674.2:g.102854989G>A | GRCh38 |
| NC_000012.11:g.103248767G>A , CM000674.1:g.103248767G>A | GRCh37 |
| NC_000012.10:g.101772897G>A | NCBI36 |
| NG_008690.1:g.67614C>T | |
| NG_008690.2:g.108422C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.706+147C>T MANE Select | ENSP00000448059.1:n.706+147C>T | |
| ENST00000307000.7:c.691+147C>T | ENSP00000303500.2:n.691+147C>T | |
| ENST00000549111.5:n.949C>T | ||
| ENST00000553106.5:c.706+147C>T | ENSP00000448059.1:n.706+147C>T | |
| NM_000277.1:c.706+147C>T | NP_000268.1:n.706+147C>T | |
| XM_011538422.1:c.706+147C>T | XP_011536724.1:n.706+147C>T | |
| NM_000277.2:c.706+147C>T | NP_000268.1:n.706+147C>T | |
| NM_001354304.1:c.706+147C>T | NP_001341233.1:n.706+147C>T | |
| XM_017019370.2:c.706+147C>T | XP_016874859.1:n.706+147C>T | |
| NM_000277.3:c.706+147C>T MANE Select | NP_000268.1:n.706+147C>T | |
| NM_001354304.2:c.706+147C>T | NP_001341233.1:n.706+147C>T |