COSMIC:
COSM3751420 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.20687504 (AMR)
Genomes Max Group AF
0.20720445 (AMR)
Exomes Max Group AF
0.20524934 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.85350451T>C , CM000663.2:g.85350451T>C | GRCh38 |
| NC_000001.10:g.85816134T>C , CM000663.1:g.85816134T>C | GRCh37 |
| NC_000001.9:g.85588722T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284031.13:c.561A>G MANE Select | ENSP00000284031.8:p.Ala187= | |
| ENST00000426972.8:c.252A>G | ENSP00000411189.4:p.Ala84= | |
| ENST00000284031.12:c.561A>G | ENSP00000284031.8:p.Ala187= | |
| ENST00000426972.7:c.252A>G | ENSP00000411189.4:p.Ala84= | |
| ENST00000483110.5:n.641A>G | ||
| ENST00000535924.6:c.252A>G | ENSP00000439045.1:p.Ala84= | |
| ENST00000539042.3:c.561A>G | ENSP00000438604.1:p.Ala187= | |
| ENST00000633113.1:c.261A>G | ENSP00000488725.1:p.Ala87= | |
| NM_001134445.1:c.252A>G | NP_001127917.1:p.Ala84= | |
| NM_012137.3:c.561A>G | NP_036269.1:p.Ala187= | |
| XM_005270707.2:c.276A>G | XP_005270764.1:p.Ala92= | |
| XM_005270709.2:c.252A>G | XP_005270766.1:p.Ala84= | |
| XM_005270710.2:c.252A>G | XP_005270767.1:p.Ala84= | |
| XM_006710544.1:c.252A>G | XP_006710607.1:p.Ala84= | |
| XM_011541158.1:c.261A>G | XP_011539460.1:p.Ala87= | |
| NM_001330655.1:c.261A>G | NP_001317584.1:p.Ala87= | |
| XM_017000889.1:c.282A>G | XP_016856378.1:p.Ala94= | |
| XM_024446130.1:c.252A>G | XP_024301898.1:p.Ala84= | |
| NM_012137.4:c.561A>G MANE Select | NP_036269.1:p.Ala187= | |
| NM_001134445.2:c.252A>G | NP_001127917.1:p.Ala84= | |
| NM_001330655.2:c.261A>G | NP_001317584.1:p.Ala87= |