gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0327172 (NFE)
Genomes Max Group AF
0.0327172 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.179272310C>T , CM000667.2:g.179272310C>T | GRCh38 |
| NC_000005.9:g.178699311C>T , CM000667.1:g.178699311C>T | GRCh37 |
| NC_000005.8:g.178631917C>T | NCBI36 |
| NG_023212.2:g.78019G>A | |
| NG_023212.3:g.78019G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698889.1:c.688+601G>A | ENSP00000514008.1:n.688+601G>A | |
| ENST00000251582.12:c.688+601G>A MANE Select | ENSP00000251582.7:n.688+601G>A | |
| ENST00000518335.3:c.688+601G>A | ENSP00000489888.2:n.688+601G>A | |
| ENST00000251582.11:c.688+601G>A | ENSP00000251582.7:n.688+601G>A | |
| ENST00000274609.5:c.688+601G>A | ENSP00000274609.5:n.688+601G>A | |
| NM_014244.4:c.688+601G>A | NP_055059.2:n.688+601G>A | |
| NM_021599.2:c.688+601G>A | NP_067610.1:n.688+601G>A | |
| NM_021599.3:c.688+601G>A | NP_067610.1:n.688+601G>A | |
| NM_014244.5:c.688+601G>A MANE Select | NP_055059.2:n.688+601G>A | |
| NM_021599.4:c.688+601G>A | NP_067610.1:n.688+601G>A |