COSMIC:
COSM3945191 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.76908517 (NFE)
Genomes Max Group AF
0.76315998 (NFE)
Exomes Max Group AF
0.76915155 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.182963952C>T , CM000665.2:g.182963952C>T | GRCh38 |
| NC_000003.11:g.182681740C>T , CM000665.1:g.182681740C>T | GRCh37 |
| NC_000003.10:g.184164434C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292782.9:c.318G>A MANE Select | ENSP00000292782.4:p.Ala106= | |
| ENST00000460412.6:c.273G>A | ENSP00000419440.2:p.Ala91= | |
| ENST00000292782.8:c.318G>A | ENSP00000292782.4:p.Ala106= | |
| ENST00000460412.5:c.273G>A | ENSP00000419440.1:p.Ala91= | |
| ENST00000469954.5:c.273G>A | ENSP00000419359.1:p.Ala91= | |
| ENST00000487822.5:c.273G>A | ENSP00000418913.1:p.Ala91= | |
| ENST00000492563.1:c.*68G>A | ENSP00000418935.1:n.*68G>A | |
| ENST00000497606.5:c.273G>A | ENSP00000417675.1:p.Ala91= | |
| ENST00000632685.1:c.273G>A | ENSP00000488427.1:p.Ala91= | |
| NM_001308101.1:c.273G>A | NP_001295030.1:p.Ala91= | |
| NM_020640.2:c.318G>A | NP_065691.2:p.Ala106= | |
| NM_020640.3:c.318G>A | NP_065691.2:p.Ala106= | |
| XM_011512912.1:c.318G>A | XP_011511214.1:p.Ala106= | |
| XM_011512913.1:c.318G>A | XP_011511215.1:p.Ala106= | |
| XM_011512914.1:c.273G>A | XP_011511216.1:p.Ala91= | |
| XM_011512915.1:c.273G>A | XP_011511217.1:p.Ala91= | |
| XM_011512916.1:c.273G>A | XP_011511218.1:p.Ala91= | |
| XM_011512912.2:c.318G>A | XP_011511214.1:p.Ala106= | |
| XM_011512915.2:c.273G>A | XP_011511217.1:p.Ala91= | |
| XM_011512916.2:c.273G>A | XP_011511218.1:p.Ala91= | |
| XM_017006633.1:c.273G>A | XP_016862122.1:p.Ala91= | |
| XM_017006634.1:c.273G>A | XP_016862123.1:p.Ala91= | |
| XM_017006635.2:c.273G>A | XP_016862124.1:p.Ala91= | |
| XM_024453601.1:c.273G>A | XP_024309369.1:p.Ala91= | |
| NM_001308101.2:c.273G>A | NP_001295030.1:p.Ala91= | |
| NM_020640.4:c.318G>A MANE Select | NP_065691.2:p.Ala106= |