gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.39964125 (EAS)
Genomes Max Group AF
0.39964125 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113425564C>T , CM000673.2:g.113425564C>T | GRCh38 |
| NC_000011.9:g.113296286C>T , CM000673.1:g.113296286C>T | GRCh37 |
| NC_000011.8:g.112801496C>T | NCBI36 |
| NG_008841.1:g.54716G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362072.8:c.-31-882G>A MANE Select | ENSP00000354859.3:n.-31-882G>A | |
| ENST00000346454.7:c.-31-882G>A | ENSP00000278597.5:n.-31-882G>A | |
| ENST00000362072.7:c.-31-882G>A | ENSP00000354859.3:n.-31-882G>A | |
| ENST00000540600.5:n.35-882G>A | ||
| ENST00000542616.1:c.-31-882G>A | ENSP00000441474.1:n.-31-882G>A | |
| ENST00000543292.1:c.-31-882G>A | ENSP00000438419.1:n.-31-882G>A | |
| NM_000795.3:c.-31-882G>A | NP_000786.1:n.-31-882G>A | |
| NM_016574.3:c.-31-882G>A | NP_057658.2:n.-31-882G>A | |
| XM_017017296.2:c.-31-882G>A | XP_016872785.1:n.-31-882G>A | |
| NM_000795.4:c.-31-882G>A MANE Select | NP_000786.1:n.-31-882G>A | |
| NM_016574.4:c.-31-882G>A | NP_057658.2:n.-31-882G>A |