gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.73682618 (AFR)
Genomes Max Group AF
0.73682618 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.116222684A>G , CM000668.2:g.116222684A>G | GRCh38 |
| NC_000006.11:g.116543847A>G , CM000668.1:g.116543847A>G | GRCh37 |
| NC_000006.10:g.116650540A>G | NCBI36 |
| NG_021351.1:g.126849A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319550.9:c.705-350A>G MANE Select | ENSP00000326858.3:n.705-350A>G | |
| ENST00000319550.8:c.705-350A>G | ENSP00000326858.3:n.705-350A>G | |
| ENST00000460749.1:c.179-350A>G | ||
| NM_152729.2:c.705-350A>G | NP_689942.2:n.705-350A>G | |
| XM_006715377.2:c.705-350A>G | XP_006715440.1:n.705-350A>G | |
| XM_006715378.2:c.705-350A>G | XP_006715441.1:n.705-350A>G | |
| XM_006715378.3:c.705-350A>G | XP_006715441.1:n.705-350A>G | |
| NM_152729.3:c.705-350A>G MANE Select | NP_689942.2:n.705-350A>G |