dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.70998548 (AFR)
Genomes Max Group AF
0.70998548 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99642556A>G , CM000669.2:g.99642556A>G | GRCh38 |
| NC_000007.13:g.99240179A>G , CM000669.1:g.99240179A>G | GRCh37 |
| NC_000007.12:g.99078115A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011515909.1:c.805+18376A>G | XP_011514211.1:n.805+18376A>G | |
| XM_011515910.1:c.806-4915A>G | XP_011514212.1:n.806-4915A>G | |
| XR_927402.1:n.1466+18376A>G | ||
| NM_001350984.1:c.805+18376A>G | NP_001337913.1:n.805+18376A>G | |
| NM_001350985.1:c.805+18376A>G | NP_001337914.1:n.805+18376A>G | |
| XM_011515909.2:c.805+18376A>G | XP_011514211.1:n.805+18376A>G | |
| XM_011515910.2:c.806-4915A>G | XP_011514212.1:n.806-4915A>G | |
| XR_927402.2:n.1465+18376A>G | ||
| NM_001350984.2:c.805+18376A>G | NP_001337913.1:n.805+18376A>G | |
| NM_001350985.2:c.805+18376A>G | NP_001337914.1:n.805+18376A>G |