gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.50307855 (AFR)
Genomes Max Group AF
0.50326319 (AFR)
Exomes Max Group AF
0.49462653 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31572536A>G , CM000668.2:g.31572536A>G | GRCh38 |
| NC_000006.11:g.31540313A>G , CM000668.1:g.31540313A>G | GRCh37 |
| NC_000006.10:g.31648292A>G | NCBI36 |
| NG_007462.1:g.1964A>G | |
| NG_012010.1:g.5438A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000418386.3:c.-10+90A>G MANE Select | ENSP00000413450.2:n.-10+90A>G | |
| ENST00000418386.2:c.-10+90A>G | ENSP00000413450.2:n.-10+90A>G | |
| ENST00000454783.5:c.-9-198A>G | ENSP00000403495.1:n.-9-198A>G | |
| ENST00000471842.1:n.153+90A>G | ||
| ENST00000489638.5:n.34-198A>G | ||
| NM_000595.3:c.-10+90A>G | NP_000586.2:n.-10+90A>G | |
| NM_001159740.2:c.-9-198A>G | NP_001153212.1:n.-9-198A>G | |
| XM_011514614.1:c.-9-198A>G | XP_011512916.1:n.-9-198A>G | |
| XM_011514615.1:c.-9-198A>G | XP_011512917.1:n.-9-198A>G | |
| XM_011514616.1:c.-9-198A>G | XP_011512918.1:n.-9-198A>G | |
| XM_011514617.1:c.-9-198A>G | XP_011512919.1:n.-9-198A>G | |
| XM_011514618.1:c.-9-198A>G | XP_011512920.1:n.-9-198A>G | |
| XR_926695.1:n.116+47T>C | ||
| NR_149045.1:n.121+47T>C | ||
| XM_011514615.2:c.-9-198A>G | XP_011512917.1:n.-9-198A>G | |
| XM_011514616.2:c.-9-198A>G | XP_011512918.1:n.-9-198A>G | |
| XM_011514617.2:c.-9-198A>G | XP_011512919.1:n.-9-198A>G | |
| NM_000595.4:c.-10+90A>G MANE Select | NP_000586.2:n.-10+90A>G |