gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000488 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33785896G>C , CM000668.2:g.33785896G>C | GRCh38 |
| NC_000006.11:g.33753673G>C , CM000668.1:g.33753673G>C | GRCh37 |
| NC_000006.10:g.33861651G>C | NCBI36 |
| NG_053042.1:g.13379C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293760.10:c.777+838C>G MANE Select | ENSP00000293760.5:n.777+838C>G | |
| ENST00000293760.9:c.777+838C>G | ENSP00000293760.5:n.777+838C>G | |
| ENST00000421671.6:c.*38+838C>G | ENSP00000398733.2:n.*38+838C>G | |
| ENST00000442696.6:c.450+2485C>G | ||
| ENST00000508327.5:c.-130+838C>G | ENSP00000421704.1:n.-130+838C>G | |
| ENST00000513701.1:c.-130+838C>G | ENSP00000423619.1:n.-130+838C>G | |
| ENST00000614475.4:c.777+838C>G | ENSP00000478539.1:n.777+838C>G | |
| NM_001143944.1:c.-130+838C>G | NP_001137416.1:n.-130+838C>G | |
| NM_181336.3:c.777+838C>G | NP_851853.1:n.777+838C>G | |
| XR_926111.1:n.784-1469C>G | ||
| NM_001348709.1:c.-130+838C>G | NP_001335638.1:n.-130+838C>G | |
| NM_001348710.1:c.378+838C>G | NP_001335639.1:n.378+838C>G | |
| XM_017010437.1:c.966+838C>G | XP_016865926.1:n.966+838C>G | |
| NM_181336.4:c.777+838C>G MANE Select | NP_851853.1:n.777+838C>G | |
| NM_001348709.2:c.-130+838C>G | NP_001335638.1:n.-130+838C>G | |
| NM_001348710.2:c.378+838C>G | NP_001335639.1:n.378+838C>G |