dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.87568039 (NFE)
Genomes Max Group AF
0.87568039 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.40626720T>C , CM000670.2:g.40626720T>C | GRCh38 |
| NC_000008.10:g.40484239T>C , CM000670.1:g.40484239T>C | GRCh37 |
| NC_000008.9:g.40603396T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297737.11:c.578-45459A>G MANE Select | ENSP00000297737.6:n.578-45459A>G | |
| ENST00000297737.10:c.578-45459A>G | ENSP00000297737.6:n.578-45459A>G | |
| ENST00000315769.11:c.350-45459A>G | ENSP00000319785.7:n.350-45459A>G | |
| ENST00000519406.5:c.578-45459A>G | ENSP00000428423.1:n.578-45459A>G | |
| NM_001135731.1:c.350-45459A>G | NP_001129203.1:n.350-45459A>G | |
| NM_024645.2:c.578-45459A>G | NP_078921.1:n.578-45459A>G | |
| XM_011544643.1:c.608-45459A>G | XP_011542945.1:n.608-45459A>G | |
| XM_011544644.1:c.607+47984A>G | XP_011542946.1:n.607+47984A>G | |
| XM_011544645.1:c.380-45459A>G | XP_011542947.1:n.380-45459A>G | |
| XM_024447276.1:c.440-45459A>G | XP_024303044.1:n.440-45459A>G | |
| XM_024447277.1:c.440-45459A>G | XP_024303045.1:n.440-45459A>G | |
| NM_024645.3:c.578-45459A>G MANE Select | NP_078921.1:n.578-45459A>G | |
| NM_001135731.2:c.350-45459A>G | NP_001129203.1:n.350-45459A>G |