gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.84811601 (AFR)
Genomes Max Group AF
0.84811601 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89180495A>G , CM000673.2:g.89180495A>G | GRCh38 |
| NC_000011.9:g.88913663A>G , CM000673.1:g.88913663A>G | GRCh37 |
| NC_000011.8:g.88553311A>G | NCBI36 |
| NG_008748.1:g.7624A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263321.6:c.819+1723A>G MANE Select | ENSP00000263321.4:n.819+1723A>G | |
| ENST00000263321.5:c.819+1723A>G | ENSP00000263321.4:n.819+1723A>G | |
| ENST00000526139.1:n.880+1723A>G | ||
| NM_000372.4:c.819+1723A>G | NP_000363.1:n.819+1723A>G | |
| XM_011542970.1:c.819+1723A>G | XP_011541272.1:n.819+1723A>G | |
| XM_011542970.2:c.819+1723A>G | XP_011541272.1:n.819+1723A>G | |
| XR_001748321.1:n.2718-66962T>C | ||
| XR_001748322.1:n.2733-66962T>C | ||
| NM_000372.5:c.819+1723A>G MANE Select | NP_000363.1:n.819+1723A>G |