COSMIC:
COSM5947298 (not active)
COSM5947299 (not active)
COSM5947300 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000443 (NFE)
Genomes Max Group AF
0.00004768 (NFE)
Exomes Max Group AF
0.00004093 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45491242C>T , CM000683.2:g.45491242C>T | GRCh38 |
| NC_000021.8:g.46911156C>T , CM000683.1:g.46911156C>T | GRCh37 |
| NC_000021.7:g.45735584C>T | NCBI36 |
| NG_011903.1:g.91060C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355480.10:c.2625C>T | ENSP00000347665.5:p.Asp875= | |
| ENST00000651438.1:c.2085C>T MANE Select | ENSP00000498485.1:p.Asp695= | |
| ENST00000342220.9:c.126C>T | ENSP00000339118.5:p.Asp42= | |
| ENST00000355480.9:c.2625C>T | ENSP00000347665.5:p.Asp875= | |
| ENST00000359759.8:c.3330C>T | ENSP00000352798.4:p.Asp1110= | |
| ENST00000400337.6:c.2085C>T | ENSP00000383191.2:p.Asp695= | |
| NM_030582.3:c.2625C>T | NP_085059.2:p.Asp875= | |
| NM_130444.2:c.3330C>T | NP_569711.2:p.Asp1110= | |
| NM_130445.3:c.2085C>T | NP_569712.2:p.Asp695= | |
| NM_030582.4:c.2625C>T | NP_085059.2:p.Asp875= | |
| NM_130444.3:c.3330C>T | NP_569711.2:p.Asp1110= | |
| NM_130445.4:c.2085C>T | NP_569712.2:p.Asp695= | |
| NM_001379500.1:c.2085C>T MANE Select | NP_001366429.1:p.Asp695= |