COSMIC:
COSM1413197 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.43523506 (EAS)
Genomes Max Group AF
0.43017918 (EAS)
Exomes Max Group AF
0.43426825 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63790269A>G , CM000682.2:g.63790269A>G | GRCh38 |
| NC_000020.10:g.62421622A>G , CM000682.1:g.62421622A>G | GRCh37 |
| NC_000020.9:g.61892066A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245663.9:c.489T>C MANE Select | ENSP00000245663.3:p.Ala163= | |
| ENST00000650966.1:c.489T>C | ENSP00000498245.1:p.Ala163= | |
| ENST00000245663.8:c.489T>C | ENSP00000245663.3:p.Ala163= | |
| ENST00000302995.2:c.489T>C | ENSP00000303102.2:p.Ala163= | |
| ENST00000395104.5:c.489T>C | ENSP00000378536.1:p.Ala163= | |
| NM_025224.3:c.489T>C | NP_079500.2:p.Ala163= | |
| XM_005260195.3:c.489T>C | XP_005260252.1:p.Ala163= | |
| XM_005260196.2:c.489T>C | XP_005260253.1:p.Ala163= | |
| XM_005260197.3:c.489T>C | XP_005260254.1:p.Ala163= | |
| XM_005260198.3:c.489T>C | XP_005260255.1:p.Ala163= | |
| XM_006723700.2:c.489T>C | XP_006723763.1:p.Ala163= | |
| XM_011528548.1:c.489T>C | XP_011526850.1:p.Ala163= | |
| XM_011528549.1:c.489T>C | XP_011526851.1:p.Ala163= | |
| XR_936500.1:n.644T>C | ||
| XR_936501.1:n.592T>C | ||
| XM_005260195.4:c.489T>C | XP_005260252.1:p.Ala163= | |
| XM_005260196.3:c.489T>C | XP_005260253.1:p.Ala163= | |
| XM_005260197.4:c.489T>C | XP_005260254.1:p.Ala163= | |
| XM_005260198.4:c.489T>C | XP_005260255.1:p.Ala163= | |
| XM_006723700.3:c.489T>C | XP_006723763.1:p.Ala163= | |
| XM_011528548.2:c.489T>C | XP_011526850.1:p.Ala163= | |
| XM_011528549.2:c.489T>C | XP_011526851.1:p.Ala163= | |
| XM_017027667.1:c.489T>C | XP_016883156.1:p.Ala163= | |
| XR_001754167.1:n.585T>C | ||
| XR_936500.2:n.586T>C | ||
| XR_936501.2:n.585T>C | ||
| NM_001369741.1:c.489T>C MANE Select | NP_001356670.1:p.Ala163= | |
| NM_025224.4:c.489T>C | NP_079500.2:p.Ala163= |