gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00014702 (SAS)
Genomes Max Group AF
0.00028298 (SAS)
Exomes Max Group AF
0.00011713 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.61073111C>G , CM000667.2:g.61073111C>G | GRCh38 |
| NC_000005.9:g.60368938C>G , CM000667.1:g.60368938C>G | GRCh37 |
| NC_000005.8:g.60404695C>G | NCBI36 |
| NG_008978.1:g.132983C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296597.10:c.128-14C>G MANE Select | ENSP00000296597.5:n.128-14C>G | |
| ENST00000677756.1:c.*144-14C>G | ENSP00000503642.1:n.*144-14C>G | |
| ENST00000677932.1:c.128-14C>G | ENSP00000504750.1:n.128-14C>G | |
| ENST00000678452.1:c.174-14C>G | ENSP00000504248.1:n.174-14C>G | |
| ENST00000296597.9:c.128-14C>G | ENSP00000296597.5:n.128-14C>G | |
| ENST00000502658.1:c.49-14C>G | ||
| ENST00000511107.1:c.174-25881C>G | ENSP00000423377.1:n.174-25881C>G | |
| ENST00000512623.1:n.166-14C>G | ||
| NM_174889.4:c.128-14C>G | NP_777549.1:n.128-14C>G | |
| NM_174889.5:c.128-14C>G MANE Select | NP_777549.1:n.128-14C>G |