COSMIC:
COSM3759780
COSM3759781
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.61101607 (AFR)
Genomes Max Group AF
0.60062253 (AFR)
Exomes Max Group AF
0.61952034 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.134951682C>T , CM000665.2:g.134951682C>T | GRCh38 |
| NC_000003.11:g.134670524C>T , CM000665.1:g.134670524C>T | GRCh37 |
| NC_000003.10:g.136153214C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398015.8:c.435C>T MANE Select | ENSP00000381097.3:p.Ser145= | |
| ENST00000647596.1:c.435C>T | ENSP00000497153.1:p.Ser145= | |
| ENST00000398015.7:c.435C>T | ENSP00000381097.3:p.Ser145= | |
| ENST00000474732.1:c.369C>T | ENSP00000418352.1:p.Ser123= | |
| ENST00000482618.5:c.435C>T | ENSP00000420338.1:p.Ser145= | |
| ENST00000488154.5:n.435C>T | ||
| NM_004441.4:c.435C>T | NP_004432.1:p.Ser145= | |
| XM_011512540.1:c.417C>T | XP_011510842.1:p.Ser139= | |
| XM_011512541.1:c.369C>T | XP_011510843.1:p.Ser123= | |
| XM_017005866.2:c.435C>T | XP_016861355.1:p.Ser145= | |
| XM_017005867.1:c.417C>T | XP_016861356.1:p.Ser139= | |
| XM_024453389.1:c.369C>T | XP_024309157.1:p.Ser123= | |
| XM_024453390.1:c.369C>T | XP_024309158.1:p.Ser123= | |
| NM_004441.5:c.435C>T MANE Select | NP_004432.1:p.Ser145= |