gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.41563718 (NFE)
Genomes Max Group AF
0.41563718 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.206778859C>G , CM000663.2:g.206778859C>G | GRCh38 |
| NC_000001.10:g.206952204C>G , CM000663.1:g.206952204C>G | GRCh37 |
| NC_000001.9:g.205018827C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000659997.3:c.-149+7781C>G MANE Select | ENSP00000499459.2:n.-149+7781C>G | |
| ENST00000656872.2:c.-149+8029C>G | ENSP00000499487.2:n.-149+8029C>G | |
| ENST00000659997.2:c.-149+7781C>G | ENSP00000499459.2:n.-149+7781C>G | |
| ENST00000662320.1:n.67+8029C>G | ||
| NM_153758.3:c.-35+7781C>G | NP_715639.1:n.-35+7781C>G | |
| NM_001393490.1:c.-149+8029C>G | NP_001380419.1:n.-149+8029C>G | |
| NM_153758.5:c.-149+7781C>G MANE Select | NP_715639.2:n.-149+7781C>G |