gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00154426 (AMR)
Genomes Max Group AF
0.00017007 (AMR)
Exomes Max Group AF
0.00195539 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.38778462A>G , CM000668.2:g.38778462A>G | GRCh38 |
| NC_000006.11:g.38746238A>G , CM000668.1:g.38746238A>G | GRCh37 |
| NC_000006.10:g.38854216A>G | NCBI36 |
| NG_041805.1:g.68122A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327475.11:c.2037A>G MANE Select | ENSP00000333363.7:p.Gln679= | |
| ENST00000327475.10:c.2037A>G | ENSP00000333363.7:p.Gln679= | |
| ENST00000359357.7:c.1386A>G | ENSP00000352312.3:p.Gln462= | |
| ENST00000449981.6:c.2037A>G | ENSP00000415331.2:p.Gln679= | |
| NM_001206927.1:c.2037A>G | NP_001193856.1:p.Gln679= | |
| XM_011514318.1:c.2037A>G | XP_011512620.1:p.Gln679= | |
| XM_011514319.1:c.2037A>G | XP_011512621.1:p.Gln679= | |
| XM_011514320.1:c.1800A>G | XP_011512622.1:p.Gln600= | |
| XM_011514321.1:c.1386A>G | XP_011512623.1:p.Gln462= | |
| XM_011514322.1:c.2037A>G | XP_011512624.1:p.Gln679= | |
| XR_926078.1:n.2154A>G | ||
| NM_001371.3:c.1386A>G | NP_001362.2:p.Gln462= | |
| XM_011514318.2:c.2037A>G | XP_011512620.1:p.Gln679= | |
| XM_011514319.2:c.2037A>G | XP_011512621.1:p.Gln679= | |
| XM_011514320.2:c.1800A>G | XP_011512622.1:p.Gln600= | |
| XM_017010325.1:c.2037A>G | XP_016865814.1:p.Gln679= | |
| XM_017010326.1:c.2037A>G | XP_016865815.1:p.Gln679= | |
| XM_017010327.1:c.2037A>G | XP_016865816.1:p.Gln679= | |
| XR_001743188.1:n.2158A>G | ||
| XR_926078.2:n.2157A>G | ||
| NM_001206927.2:c.2037A>G MANE Select | NP_001193856.1:p.Gln679= | |
| NM_001371.4:c.1386A>G | NP_001362.2:p.Gln462= |