COSMIC:
COSM5425341 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.61532263 (NFE)
Genomes Max Group AF
0.61338219 (NFE)
Exomes Max Group AF
0.61517486 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.78497146C>T , CM000677.2:g.78497146C>T | GRCh38 |
| NC_000015.9:g.78789488C>T , CM000677.1:g.78789488C>T | GRCh37 |
| NC_000015.8:g.76576543C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258886.13:c.2616C>T MANE Select | ENSP00000258886.8:p.Ala872= | |
| ENST00000258886.12:c.2616C>T | ENSP00000258886.8:p.Ala872= | |
| ENST00000558570.5:c.*1883C>T | ENSP00000454063.1:n.*1883C>T | |
| ENST00000559091.1:c.76C>T | ||
| NM_004136.2:c.2616C>T | NP_004127.1:p.Ala872= | |
| NM_001320941.1:c.1866C>T | NP_001307870.1:p.Ala622= | |
| NM_001320942.1:c.2445C>T | NP_001307871.1:p.Ala815= | |
| NM_001354994.1:c.2445C>T | NP_001341923.1:p.Ala815= | |
| NM_004136.3:c.2616C>T | NP_004127.1:p.Ala872= | |
| NM_004136.4:c.2616C>T MANE Select | NP_004127.2:p.Ala872= | |
| NM_001320941.2:c.1866C>T | NP_001307870.2:p.Ala622= | |
| NM_001320942.2:c.2445C>T | NP_001307871.2:p.Ala815= | |
| NM_001354994.2:c.2445C>T | NP_001341923.2:p.Ala815= |