gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.54496877 (NFE)
Genomes Max Group AF
0.54496877 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.229657682G>A , CM000664.2:g.229657682G>A | GRCh38 |
| NC_000002.11:g.230522398G>A , CM000664.1:g.230522398G>A | GRCh37 |
| NC_000002.10:g.230230642G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341772.5:c.276+56466C>T MANE Select | ENSP00000345229.4:n.276+56466C>T | |
| ENST00000341772.4:c.276+56466C>T | ENSP00000345229.4:n.276+56466C>T | |
| NM_139072.3:c.276+56466C>T | NP_620711.3:n.276+56466C>T | |
| XM_005246950.2:c.276+56466C>T | XP_005247007.1:n.276+56466C>T | |
| XM_005246950.3:c.276+56466C>T | XP_005247007.1:n.276+56466C>T | |
| NM_139072.4:c.276+56466C>T MANE Select | NP_620711.3:n.276+56466C>T |