gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.17473765 (AFR)
Genomes Max Group AF
0.17473765 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.139963653A>G , CM000665.2:g.139963653A>G | GRCh38 |
| NC_000003.11:g.139682495A>G , CM000665.1:g.139682495A>G | GRCh37 |
| NC_000003.10:g.141165185A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000458420.7:c.109+28170A>G MANE Select | ENSP00000402460.2:n.109+28170A>G | |
| ENST00000511524.1:n.297+28170A>G | ||
| NM_022131.2:c.109+28170A>G | NP_071414.2:n.109+28170A>G | |
| NM_022131.3:c.109+28170A>G MANE Select | NP_071414.2:n.109+28170A>G |