gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.51769215 (AFR)
Genomes Max Group AF
0.51769215 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40313769A>G , CM000679.2:g.40313769A>G | GRCh38 |
| NC_000017.10:g.38470021A>G , CM000679.1:g.38470021A>G | GRCh37 |
| NC_000017.9:g.35723547A>G | NCBI36 |
| NG_027701.1:g.9599A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254066.10:c.-363+4483A>G MANE Select | ENSP00000254066.5:n.-363+4483A>G | |
| ENST00000254066.9:c.-363+4483A>G | ENSP00000254066.5:n.-363+4483A>G | |
| ENST00000577646.5:c.-440+4483A>G | ENSP00000464287.1:n.-440+4483A>G | |
| NM_000964.3:c.-363+4483A>G | NP_000955.1:n.-363+4483A>G | |
| XM_011525095.1:c.-440+4483A>G | XP_011523397.1:n.-440+4483A>G | |
| NM_000964.4:c.-363+4483A>G MANE Select | NP_000955.1:n.-363+4483A>G |