gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.9036942 (AFR)
Genomes Max Group AF
0.9036942 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.138114823A>G , CM000669.2:g.138114823A>G | GRCh38 |
| NC_000007.13:g.137799569A>G , CM000669.1:g.137799569A>G | GRCh37 |
| NC_000007.12:g.137450109A>G | NCBI36 |
| NG_023342.1:g.43392A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242375.8:c.938+1051A>G MANE Select | ENSP00000242375.3:n.938+1051A>G | |
| ENST00000242375.7:c.938+1051A>G | ENSP00000242375.3:n.938+1051A>G | |
| ENST00000411726.6:c.815+1051A>G | ENSP00000402374.2:n.815+1051A>G | |
| ENST00000432161.5:c.856-1797A>G | ENSP00000389197.1:n.856-1797A>G | |
| ENST00000468877.2:n.961+1051A>G | ||
| NM_001190906.1:c.815+1051A>G | NP_001177835.1:n.815+1051A>G | |
| NM_001190907.1:c.856-1797A>G | NP_001177836.1:n.856-1797A>G | |
| NM_005989.3:c.938+1051A>G | NP_005980.1:n.938+1051A>G | |
| NM_005989.4:c.938+1051A>G MANE Select | NP_005980.1:n.938+1051A>G | |
| NM_001190906.2:c.815+1051A>G | NP_001177835.1:n.815+1051A>G | |
| NM_001190907.2:c.856-1797A>G | NP_001177836.1:n.856-1797A>G |