gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.52456497 (NFE)
Genomes Max Group AF
0.52456497 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64563990A>G , CM000673.2:g.64563990A>G | GRCh38 |
| NC_000011.9:g.64331462A>G , CM000673.1:g.64331462A>G | GRCh37 |
| NC_000011.8:g.64088038A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301891.9:c.822-318A>G MANE Select | ENSP00000301891.4:n.822-318A>G | |
| ENST00000301891.8:c.822-318A>G | ENSP00000301891.4:n.822-318A>G | |
| ENST00000377581.7:c.822-318A>G | ENSP00000366804.3:n.822-318A>G | |
| ENST00000377585.7:c.822-318A>G | ENSP00000366809.3:n.822-318A>G | |
| ENST00000460745.1:n.247-318A>G | ||
| ENST00000478051.5:n.855-1232A>G | ||
| ENST00000490834.5:n.751-1232A>G | ||
| NM_001307985.1:c.822-318A>G | NP_001294914.1:n.822-318A>G | |
| NM_018484.2:c.822-318A>G | NP_060954.1:n.822-318A>G | |
| NM_018484.3:c.822-318A>G | NP_060954.1:n.822-318A>G | |
| XM_011545167.1:c.423-318A>G | XP_011543469.1:n.423-318A>G | |
| NM_001307985.2:c.822-318A>G | NP_001294914.1:n.822-318A>G | |
| NM_018484.4:c.822-318A>G MANE Select | NP_060954.1:n.822-318A>G |