gnomAD v4:
Joint Max Group AF
0.00000506 (AFR)
Exomes Max Group AF
0.0000148 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.12295857C>G , CM000668.2:g.12295857C>G | GRCh38 |
| NC_000006.11:g.12296090C>G , CM000668.1:g.12296090C>G | GRCh37 |
| NC_000006.10:g.12404076C>G | NCBI36 |
| NG_016196.1:g.10562C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379375.6:c.534-105C>G MANE Select | ENSP00000368683.5:n.534-105C>G | |
| ENST00000379375.5:c.534-105C>G | ENSP00000368683.5:n.534-105C>G | |
| NM_001168319.1:c.531-105C>G | NP_001161791.1:n.531-105C>G | |
| NM_001955.4:c.534-105C>G | NP_001946.3:n.534-105C>G | |
| XM_011514330.1:c.534-105C>G | XP_011512632.1:n.534-105C>G | |
| XM_011514331.1:c.534-105C>G | XP_011512633.1:n.534-105C>G | |
| XM_011514332.1:c.531-105C>G | XP_011512634.1:n.531-105C>G | |
| XM_011514330.2:c.534-105C>G | XP_011512632.1:n.534-105C>G | |
| XM_011514331.3:c.534-105C>G | XP_011512633.1:n.534-105C>G | |
| XM_011514332.2:c.531-105C>G | XP_011512634.1:n.531-105C>G | |
| XM_017010331.1:c.534-105C>G | XP_016865820.1:n.534-105C>G | |
| NM_001955.5:c.534-105C>G MANE Select | NP_001946.3:n.534-105C>G | |
| NM_001168319.2:c.531-105C>G | NP_001161791.1:n.531-105C>G |