gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.71491546 (EAS)
Genomes Max Group AF
0.71491546 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128247086A>G , CM000669.2:g.128247086A>G | GRCh38 |
| NC_000007.13:g.127887139A>G , CM000669.1:g.127887139A>G | GRCh37 |
| NC_000007.12:g.127674375A>G | NCBI36 |
| NG_007450.1:g.10809A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308868.5:c.-28-4905A>G MANE Select | ENSP00000312652.4:n.-28-4905A>G | |
| ENST00000308868.4:c.-28-4905A>G | ENSP00000312652.4:n.-28-4905A>G | |
| NM_000230.2:c.-28-4905A>G | NP_000221.1:n.-28-4905A>G | |
| XM_005250340.3:c.-28-4905A>G | XP_005250397.1:n.-28-4905A>G | |
| XM_005250340.5:c.-28-4905A>G | XP_005250397.1:n.-28-4905A>G | |
| NM_000230.3:c.-28-4905A>G MANE Select | NP_000221.1:n.-28-4905A>G |