COSMIC:
COSN19767897 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.53228755 (EAS)
Genomes Max Group AF
0.53228755 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121497212C>T , CM000673.2:g.121497212C>T | GRCh38 |
| NC_000011.9:g.121367921C>T , CM000673.1:g.121367921C>T | GRCh37 |
| NC_000011.8:g.120873131C>T | NCBI36 |
| NG_023313.1:g.49961C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260197.12:c.939+163C>T MANE Select | ENSP00000260197.6:n.939+163C>T | |
| ENST00000260197.11:c.939+163C>T | ENSP00000260197.6:n.939+163C>T | |
| ENST00000532451.1:n.891+163C>T | ||
| NM_003105.5:c.939+163C>T | NP_003096.1:n.939+163C>T | |
| XM_011542963.1:c.939+163C>T | XP_011541265.1:n.939+163C>T | |
| XM_011542964.1:c.939+163C>T | XP_011541266.1:n.939+163C>T | |
| XM_011542963.3:c.939+163C>T | XP_011541265.1:n.939+163C>T | |
| XM_011542965.3:c.-684+163C>T | XP_011541267.1:n.-684+163C>T | |
| XM_017018169.2:c.627+163C>T | XP_016873658.1:n.627+163C>T | |
| XM_017018170.2:c.414+163C>T | XP_016873659.1:n.414+163C>T | |
| XM_017018171.1:c.939+163C>T | XP_016873660.1:n.939+163C>T | |
| NM_003105.6:c.939+163C>T MANE Select | NP_003096.2:n.939+163C>T |