gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00336542 (AFR)
Genomes Max Group AF
0.0035428 (AFR)
Exomes Max Group AF
0.00271263 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.12376957G>A , CM000680.2:g.12376957G>A | GRCh38 |
| NC_000018.9:g.12376956G>A , CM000680.1:g.12376956G>A | GRCh37 |
| NC_000018.8:g.12366956G>A | NCBI36 |
| NG_023361.1:g.5320C>T , LRG_666:g.5320C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000687337.1:c.114+12C>T | ENSP00000508998.1:n.114+12C>T | |
| ENST00000688199.1:c.114+12C>T | ENSP00000510237.1:n.114+12C>T | |
| ENST00000691179.1:c.114+12C>T | ENSP00000509010.1:n.114+12C>T | |
| ENST00000691970.1:c.114+12C>T | ENSP00000508440.1:n.114+12C>T | |
| ENST00000692497.1:c.114+12C>T | ENSP00000509870.1:n.114+12C>T | |
| ENST00000269143.8:c.114+12C>T MANE Select | ENSP00000269143.2:n.114+12C>T | |
| ENST00000269143.7:c.114+12C>T | ENSP00000269143.2:n.114+12C>T | |
| ENST00000590811.1:c.34+12C>T | ||
| NM_006796.2:c.114+12C>T , LRG_666t1:c.114+12C>T | NP_006787.2:n.114+12C>T | |
| XM_011525601.1:c.114+12C>T | XP_011523903.1:n.114+12C>T | |
| XM_011525601.3:c.114+12C>T | XP_011523903.1:n.114+12C>T | |
| NM_006796.3:c.114+12C>T MANE Select | NP_006787.2:n.114+12C>T |