gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.11806843 (AFR)
Genomes Max Group AF
0.1145794 (AFR)
Exomes Max Group AF
0.1225846 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48464432T>G , CM000665.2:g.48464432T>G | GRCh38 |
| NC_000003.11:g.48505831T>G , CM000665.1:g.48505831T>G | GRCh37 |
| NC_000003.10:g.48480835T>G | NCBI36 |
| NG_009820.1:g.3603T>G | |
| NG_041782.1:g.22723T>G | |
| NG_009820.2:g.3603T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320211.10:c.1975-150T>G MANE Select | ENSP00000323099.3:n.1975-150T>G | |
| ENST00000634384.2:c.1413-150T>G | ||
| ENST00000639561.1:c.*1638-150T>G | ENSP00000491983.1:n.*1638-150T>G | |
| ENST00000320211.8:c.1975-150T>G | ENSP00000323099.3:n.1975-150T>G | |
| ENST00000346691.9:c.1974+300T>G | ENSP00000302338.5:n.1974+300T>G | |
| ENST00000357105.10:c.1594-150T>G | ENSP00000349620.6:n.1594-150T>G | |
| ENST00000412052.4:c.1696-150T>G | ENSP00000400930.1:n.1696-150T>G | |
| ENST00000634384.1:c.*1638-150T>G | ENSP00000489041.1:n.*1638-150T>G | |
| ENST00000635464.1:c.1771-150T>G | ENSP00000489199.1:n.1771-150T>G | |
| NM_001271022.1:c.1594-150T>G | NP_001257951.1:n.1594-150T>G | |
| NM_001271023.1:c.1696-150T>G | NP_001257952.1:n.1696-150T>G | |
| NM_032166.3:c.1974+300T>G | NP_115542.2:n.1974+300T>G | |
| NM_130384.2:c.1975-150T>G | NP_569055.1:n.1975-150T>G | |
| NR_153405.1:n.2127-150T>G | ||
| NM_130384.3:c.1975-150T>G MANE Select | NP_569055.1:n.1975-150T>G | |
| NM_001271023.2:c.1696-150T>G | NP_001257952.1:n.1696-150T>G | |
| NM_032166.4:c.1974+300T>G | NP_115542.2:n.1974+300T>G | |
| NM_001271022.2:c.1594-150T>G | NP_001257951.1:n.1594-150T>G |