gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.75035497 (NFE)
Genomes Max Group AF
0.75035497 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151022235A>G , CM000667.2:g.151022235A>G | GRCh38 |
| NC_000005.9:g.150401796A>G , CM000667.1:g.150401796A>G | GRCh37 |
| NC_000005.8:g.150381989A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388825.9:c.87+1494A>G MANE Select | ENSP00000373477.4:n.87+1494A>G | |
| ENST00000388825.8:c.87+1494A>G | ENSP00000373477.4:n.87+1494A>G | |
| ENST00000517973.1:c.87+1494A>G | ENSP00000429709.1:n.87+1494A>G | |
| ENST00000519214.5:c.*321+982A>G | ENSP00000430508.1:n.*321+982A>G | |
| ENST00000521650.5:c.114+1381A>G | ENSP00000427873.1:n.114+1381A>G | |
| ENST00000521722.5:n.150+1494A>G | ||
| ENST00000614343.4:c.87+1494A>G | ENSP00000483660.1:n.87+1494A>G | |
| ENST00000622181.4:c.87+1494A>G | ENSP00000484258.1:n.87+1494A>G | |
| NM_002084.3:c.87+1494A>G | NP_002075.2:n.87+1494A>G | |
| NM_001329790.1:c.114+1381A>G | NP_001316719.1:n.114+1381A>G | |
| NM_002084.4:c.87+1494A>G | NP_002075.2:n.87+1494A>G | |
| NM_002084.5:c.87+1494A>G MANE Select | NP_002075.2:n.87+1494A>G | |
| NM_001329790.2:c.114+1381A>G | NP_001316719.1:n.114+1381A>G |