COSMIC:
COSM437110 (not active)
COSM3766144 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.64422533 (EAS)
Genomes Max Group AF
0.64710108 (EAS)
Exomes Max Group AF
0.64182925 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63484948C>T , CM000679.2:g.63484948C>T | GRCh38 |
| NC_000017.10:g.61562309C>T , CM000679.1:g.61562309C>T | GRCh37 |
| NC_000017.9:g.58916041C>T | NCBI36 |
| NG_011648.1:g.12876C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.1922-288C>T MANE Select | ENSP00000290866.4:n.1922-288C>T | |
| ENST00000290863.10:c.81C>T | ENSP00000290863.6:p.Pro27= | |
| ENST00000290866.9:c.1922-288C>T | ENSP00000290866.4:n.1922-288C>T | |
| ENST00000413513.7:c.81C>T | ENSP00000392247.3:p.Pro27= | |
| ENST00000428043.5:c.1922-288C>T | ENSP00000397593.2:n.1922-288C>T | |
| ENST00000577647.2:c.81C>T | ENSP00000464149.1:p.Pro27= | |
| ENST00000578839.5:c.81C>T | ENSP00000462110.2:p.Pro27= | |
| ENST00000579204.1:c.81C>T | ENSP00000464629.1:p.Pro27= | |
| ENST00000579314.5:c.81C>T | ENSP00000462599.1:p.Pro27= | |
| ENST00000579726.5:c.205-22C>T | ||
| ENST00000582005.5:c.81C>T | ENSP00000462002.1:p.Pro27= | |
| ENST00000582678.5:c.*1321-288C>T | ENSP00000462995.1:n.*1321-288C>T | |
| NM_000789.3:c.1922-288C>T | NP_000780.1:n.1922-288C>T | |
| NM_001178057.1:c.81C>T | NP_001171528.1:p.Pro27= | |
| NM_152830.2:c.81C>T | NP_690043.1:p.Pro27= | |
| XM_005257110.1:c.1373-288C>T | XP_005257167.1:n.1373-288C>T | |
| XM_006721737.2:c.238C>T | XP_006721800.2:p.Gln80Ter | |
| XM_006721737.3:c.238C>T | XP_006721800.2:p.Gln80Ter | |
| NM_000789.4:c.1922-288C>T MANE Select | NP_000780.1:n.1922-288C>T | |
| NM_001178057.2:c.81C>T | NP_001171528.1:p.Pro27= | |
| NM_152830.3:c.81C>T | NP_690043.1:p.Pro27= | |
| NM_001382700.1:c.1355-288C>T | NP_001369629.1:n.1355-288C>T | |
| NM_001382701.1:c.1070-288C>T | NP_001369630.1:n.1070-288C>T | |
| NM_001382702.1:c.-171C>T | NP_001369631.1:n.-171C>T | |
| NR_168483.1:n.103C>T |