COSMIC:
COSM3722437 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.67641203 (EAS)
Genomes Max Group AF
0.64146926 (EAS)
Exomes Max Group AF
0.6789685 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46439310A>G , CM000665.2:g.46439310A>G | GRCh38 |
| NC_000003.11:g.46480801A>G , CM000665.1:g.46480801A>G | GRCh37 |
| NC_000003.10:g.46455805A>G | NCBI36 |
| NG_023257.1:g.30595T>C | |
| NG_023257.2:g.50925T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231751.9:c.1894T>C MANE Select | ENSP00000231751.4:p.Leu632= | |
| ENST00000231751.8:c.1894T>C | ENSP00000231751.4:p.Leu632= | |
| ENST00000417439.5:c.1888T>C | ENSP00000405546.1:p.Leu630= | |
| ENST00000426532.6:c.1762T>C | ENSP00000405719.2:p.Leu588= | |
| ENST00000443496.5:c.1855T>C | ENSP00000397427.1:p.Leu619= | |
| ENST00000478874.2:n.417T>C | ||
| ENST00000493056.5:n.383T>C | ||
| NM_001199149.1:c.1762T>C | NP_001186078.1:p.Leu588= | |
| NM_002343.4:c.1894T>C | NP_002334.2:p.Leu632= | |
| NM_001321121.1:c.1888T>C | NP_001308050.1:p.Leu630= | |
| NM_001321122.1:c.1855T>C | NP_001308051.1:p.Leu619= | |
| NM_002343.5:c.1894T>C | NP_002334.2:p.Leu632= | |
| NM_001199149.2:c.1762T>C | NP_001186078.1:p.Leu588= | |
| NM_001321121.2:c.1888T>C | NP_001308050.1:p.Leu630= | |
| NM_002343.6:c.1894T>C MANE Select | NP_002334.2:p.Leu632= | |
| NM_001321122.2:c.1855T>C | NP_001308051.1:p.Leu619= |