COSMIC:
COSN19619242 (not active)
COSN19635119 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.53130016 (EAS)
Genomes Max Group AF
0.56619371 (EAS)
Exomes Max Group AF
0.52438004 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121608249C>T , CM000673.2:g.121608249C>T | GRCh38 |
| NC_000011.9:g.121478958C>T , CM000673.1:g.121478958C>T | GRCh37 |
| NC_000011.8:g.120984168C>T | NCBI36 |
| NG_023313.1:g.160998C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260197.12:c.5239+73C>T MANE Select | ENSP00000260197.6:n.5239+73C>T | |
| ENST00000260197.11:c.5239+73C>T | ENSP00000260197.6:n.5239+73C>T | |
| ENST00000525532.5:c.2071+73C>T | ENSP00000434634.1:n.2071+73C>T | |
| ENST00000527934.1:c.1084+73C>T | ENSP00000435405.1:n.1084+73C>T | |
| ENST00000528339.5:n.50C>T | ||
| ENST00000532694.5:c.1777+73C>T | ENSP00000432131.1:n.1777+73C>T | |
| ENST00000534286.5:c.1969+73C>T | ENSP00000436447.1:n.1969+73C>T | |
| NM_003105.5:c.5239+73C>T | NP_003096.1:n.5239+73C>T | |
| XM_011542963.1:c.5125+73C>T | XP_011541265.1:n.5125+73C>T | |
| XM_011542964.1:c.5239+73C>T | XP_011541266.1:n.5239+73C>T | |
| XM_011542965.1:c.3700+73C>T | XP_011541267.1:n.3700+73C>T | |
| XM_011542966.1:c.2599+73C>T | XP_011541268.1:n.2599+73C>T | |
| XM_011542967.1:c.2071+73C>T | XP_011541269.1:n.2071+73C>T | |
| XM_011542963.3:c.5125+73C>T | XP_011541265.1:n.5125+73C>T | |
| XM_011542965.3:c.3700+73C>T | XP_011541267.1:n.3700+73C>T | |
| XM_011542967.3:c.2071+73C>T | XP_011541269.1:n.2071+73C>T | |
| XM_017018169.2:c.4927+73C>T | XP_016873658.1:n.4927+73C>T | |
| XM_017018170.2:c.4714+73C>T | XP_016873659.1:n.4714+73C>T | |
| XM_017018171.1:c.5239+73C>T | XP_016873660.1:n.5239+73C>T | |
| XM_017018172.2:c.2599+73C>T | XP_016873661.1:n.2599+73C>T | |
| NM_003105.6:c.5239+73C>T MANE Select | NP_003096.2:n.5239+73C>T |