gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.86013045 (AFR)
Genomes Max Group AF
0.86013045 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.93908983A>G , CM000669.2:g.93908983A>G | GRCh38 |
| NC_000007.13:g.93538295A>G , CM000669.1:g.93538295A>G | GRCh37 |
| NC_000007.12:g.93376231A>G | NCBI36 |
| NG_051196.1:g.7476A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248572.10:c.97-1807A>G MANE Select | ENSP00000248572.5:n.97-1807A>G | |
| ENST00000248572.9:c.97-1807A>G | ENSP00000248572.5:n.97-1807A>G | |
| ENST00000428834.1:c.97-500A>G | ENSP00000401781.1:n.97-500A>G | |
| ENST00000429473.1:c.97-1807A>G | ENSP00000388777.1:n.97-1807A>G | |
| ENST00000430875.1:c.97-500A>G | ENSP00000395756.1:n.97-500A>G | |
| ENST00000455502.5:c.97-500A>G | ENSP00000395857.1:n.97-500A>G | |
| NM_021955.3:c.97-1807A>G | NP_068774.1:n.97-1807A>G | |
| NM_001329426.1:c.97-1807A>G | NP_001316355.1:n.97-1807A>G | |
| NM_021955.4:c.97-1807A>G | NP_068774.1:n.97-1807A>G | |
| NM_001329426.2:c.97-1807A>G | NP_001316355.1:n.97-1807A>G | |
| NM_021955.5:c.97-1807A>G MANE Select | NP_068774.1:n.97-1807A>G |