ClinVar RCV:
ClinVar Variation:
COSMIC:
COSM3751751
COSM3751752
COSM3751753
COSM3751754
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.61886515 (EAS)
Genomes Max Group AF
0.60214861 (EAS)
Exomes Max Group AF
0.61911755 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.33221735G>A , CM000672.2:g.33221735G>A | GRCh38 |
| NC_000010.10:g.33510663G>A , CM000672.1:g.33510663G>A | GRCh37 |
| NC_000010.9:g.33550669G>A | NCBI36 |
| NG_030328.1:g.118171C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374867.7:c.1266C>T MANE Select | ENSP00000364001.2:p.Tyr422= | |
| ENST00000265371.8:c.1266C>T | ENSP00000265371.3:p.Tyr422= | |
| ENST00000374816.7:c.1266C>T | ENSP00000363949.3:p.Tyr422= | |
| ENST00000374821.9:c.1266C>T | ENSP00000363954.5:p.Tyr422= | |
| ENST00000374822.8:c.1266C>T | ENSP00000363955.4:p.Tyr422= | |
| ENST00000374823.9:c.1266C>T | ENSP00000363956.5:p.Tyr422= | |
| ENST00000374867.6:c.1266C>T | ENSP00000364001.2:p.Tyr422= | |
| ENST00000374875.5:c.723C>T | ENSP00000364009.1:p.Tyr241= | |
| ENST00000395995.5:c.1266C>T | ENSP00000379317.1:p.Tyr422= | |
| ENST00000432372.6:c.1266C>T | ENSP00000408911.2:p.Tyr422= | |
| NM_001024628.2:c.1266C>T | NP_001019799.1:p.Tyr422= | |
| NM_001024629.2:c.1266C>T | NP_001019800.1:p.Tyr422= | |
| NM_001244972.1:c.1266C>T | NP_001231901.1:p.Tyr422= | |
| NM_001244973.1:c.1266C>T | NP_001231902.1:p.Tyr422= | |
| NM_003873.5:c.1266C>T | NP_003864.4:p.Tyr422= | |
| NR_045259.1:n.1607C>T | ||
| XM_006717521.1:c.1266C>T | XP_006717584.1:p.Tyr422= | |
| XM_006717522.1:c.1266C>T | XP_006717585.1:p.Tyr422= | |
| XM_006717523.1:c.1266C>T | XP_006717586.1:p.Tyr422= | |
| XM_006717524.1:c.1266C>T | XP_006717587.1:p.Tyr422= | |
| XM_006717525.1:c.1266C>T | XP_006717588.1:p.Tyr422= | |
| XM_006717526.1:c.1266C>T | XP_006717589.1:p.Tyr422= | |
| XM_011519755.1:c.1266C>T | XP_011518057.1:p.Tyr422= | |
| XM_011519756.1:c.1266C>T | XP_011518058.1:p.Tyr422= | |
| NM_001330068.1:c.1266C>T | NP_001316997.1:p.Tyr422= | |
| XM_006717521.2:c.1266C>T | XP_006717584.1:p.Tyr422= | |
| XM_006717522.2:c.1266C>T | XP_006717585.1:p.Tyr422= | |
| XM_006717524.2:c.1266C>T | XP_006717587.1:p.Tyr422= | |
| XM_006717525.2:c.1266C>T | XP_006717588.1:p.Tyr422= | |
| XM_006717526.2:c.1266C>T | XP_006717589.1:p.Tyr422= | |
| XM_011519755.3:c.1266C>T | XP_011518057.1:p.Tyr422= | |
| XM_011519756.2:c.1266C>T | XP_011518058.1:p.Tyr422= | |
| XM_017016865.2:c.1266C>T | XP_016872354.1:p.Tyr422= | |
| XM_017016866.2:c.723C>T | XP_016872355.1:p.Tyr241= | |
| NM_003873.6:c.1266C>T | NP_003864.4:p.Tyr422= | |
| NM_001024628.3:c.1266C>T | NP_001019799.2:p.Tyr422= | |
| NM_001024629.3:c.1266C>T | NP_001019800.2:p.Tyr422= | |
| NM_001244972.2:c.1266C>T | NP_001231901.2:p.Tyr422= | |
| NM_001244973.2:c.1266C>T | NP_001231902.2:p.Tyr422= | |
| NM_001330068.2:c.1266C>T | NP_001316997.2:p.Tyr422= | |
| NM_003873.7:c.1266C>T MANE Select | NP_003864.5:p.Tyr422= | |
| NR_045259.2:n.1369C>T |