gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.99173893 (NFE)
Genomes Max Group AF
0.99173893 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48127189C>G , CM000677.2:g.48127189C>G | GRCh38 |
| NC_000015.9:g.48419386C>G , CM000677.1:g.48419386C>G | GRCh37 |
| NC_000015.8:g.46206678C>G | NCBI36 |
| NG_011500.1:g.11218C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341459.8:c.301+5153C>G MANE Select | ENSP00000341550.3:n.301+5153C>G | |
| ENST00000341459.7:c.301+5153C>G | ENSP00000341550.3:n.301+5153C>G | |
| ENST00000449382.2:c.121+6024C>G | ENSP00000389966.2:n.121+6024C>G | |
| ENST00000463289.1:n.61+5153C>G | ||
| NM_205850.2:c.301+5153C>G | NP_995322.1:n.301+5153C>G | |
| XM_011521458.1:c.301+5153C>G | XP_011519760.1:n.301+5153C>G | |
| XM_017022079.1:c.-263C>G | XP_016877568.1:n.-263C>G | |
| XM_017022080.1:c.-347C>G | XP_016877569.1:n.-347C>G | |
| XM_024449901.1:c.-263C>G | XP_024305669.1:n.-263C>G | |
| NM_205850.3:c.301+5153C>G MANE Select | NP_995322.1:n.301+5153C>G |