COSMIC:
COSM3756963 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.80210532 (AFR)
Genomes Max Group AF
0.79929486 (AFR)
Exomes Max Group AF
0.80061022 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45940481T>G , CM000681.2:g.45940481T>G | GRCh38 |
| NC_000019.9:g.46443739T>G , CM000681.1:g.46443739T>G | GRCh37 |
| NC_000019.8:g.51135579T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263257.6:c.861A>C MANE Select | ENSP00000263257.4:p.Ala287= | |
| ENST00000676183.1:c.1053A>C | ENSP00000501708.1:p.Ala351= | |
| ENST00000263257.5:c.861A>C | ENSP00000263257.4:p.Ala287= | |
| NM_002516.2:c.861A>C | NP_002507.1:p.Ala287= | |
| XM_006723230.2:c.534A>C | XP_006723293.1:p.Ala178= | |
| XM_011526994.1:c.942A>C | XP_011525296.1:p.Ala314= | |
| XM_011526995.1:c.393A>C | XP_011525297.1:p.Ala131= | |
| XM_011526996.1:c.393A>C | XP_011525298.1:p.Ala131= | |
| NM_002516.3:c.861A>C | NP_002507.1:p.Ala287= | |
| XM_006723230.3:c.534A>C | XP_006723293.1:p.Ala178= | |
| XM_017026838.1:c.534A>C | XP_016882327.1:p.Ala178= | |
| XM_017026839.1:c.534A>C | XP_016882328.1:p.Ala178= | |
| XM_017026840.1:c.534A>C | XP_016882329.1:p.Ala178= | |
| NM_002516.4:c.861A>C MANE Select | NP_002507.1:p.Ala287= |