COSMIC:
COSM4146123 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.34967363 (NFE)
Genomes Max Group AF
0.35323091 (NFE)
Exomes Max Group AF
0.34925452 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65649963G>A , CM000673.2:g.65649963G>A | GRCh38 |
| NC_000011.9:g.65417434G>A , CM000673.1:g.65417434G>A | GRCh37 |
| NC_000011.8:g.65174010G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000534313.6:c.2760G>A MANE Select | ENSP00000436269.1:p.Ala920= | |
| ENST00000394224.3:c.2760G>A | ENSP00000377771.3:p.Ala920= | |
| ENST00000394227.7:c.2760G>A | ENSP00000377774.4:p.Ala920= | |
| ENST00000527525.5:c.2454G>A | ENSP00000433686.1:p.Ala818= | |
| ENST00000529725.1:n.194G>A | ||
| ENST00000531339.5:n.577G>A | ||
| ENST00000534313.5:c.2760G>A | ENSP00000436269.1:p.Ala920= | |
| ENST00000628801.2:c.2454G>A | ENSP00000485899.1:p.Ala818= | |
| NM_006747.3:c.2760G>A | NP_006738.3:p.Ala920= | |
| NM_153253.29:c.2760G>A | NP_694985.29:p.Ala920= | |
| XM_005274189.2:c.2760G>A | XP_005274246.1:p.Ala920= | |
| XM_011545214.1:c.2760G>A | XP_011543516.1:p.Ala920= | |
| XM_011545215.1:c.1713G>A | XP_011543517.1:p.Ala571= | |
| XR_247210.2:n.2699G>A | ||
| NM_006747.4:c.2760G>A MANE Select | NP_006738.3:p.Ala920= | |
| NM_153253.30:c.2760G>A | NP_694985.29:p.Ala920= |