gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001171 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201293304C>G , CM000663.2:g.201293304C>G | GRCh38 |
| NC_000001.10:g.201262432C>G , CM000663.1:g.201262432C>G | GRCh37 |
| NC_000001.9:g.199529055C>G | NCBI36 |
| NG_023337.1:g.14853C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367324.8:c.203-638C>G MANE Select | ENSP00000356293.4:n.203-638C>G | |
| ENST00000263946.7:c.203-638C>G | ENSP00000263946.3:n.203-638C>G | |
| ENST00000352845.3:c.203-638C>G | ENSP00000295597.3:n.203-638C>G | |
| ENST00000367324.7:c.203-638C>G | ENSP00000356293.3:n.203-638C>G | |
| ENST00000622031.4:c.203-638C>G | ENSP00000482213.1:n.203-638C>G | |
| NM_000299.3:c.203-638C>G | NP_000290.2:n.203-638C>G | |
| NM_001005337.2:c.203-638C>G | NP_001005337.1:n.203-638C>G | |
| NM_001005337.3:c.203-638C>G MANE Select | NP_001005337.1:n.203-638C>G | |
| NM_000299.4:c.203-638C>G | NP_000290.2:n.203-638C>G |