COSMIC:
COSN19697724 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.62932957 (EAS)
Genomes Max Group AF
0.60947099 (EAS)
Exomes Max Group AF
0.63246765 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.176150242G>T , CM000664.2:g.176150242G>T | GRCh38 |
| NC_000002.11:g.177014970G>T , CM000664.1:g.177014970G>T | GRCh37 |
| NC_000002.10:g.176723216G>T | NCBI36 |
| NG_012080.1:g.3858G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432796.2:c.-85+13243G>T | ENSP00000392615.2:n.-85+13243G>T | |
| XM_005246510.3:c.-181+13243G>T | XP_005246567.1:n.-181+13243G>T | |
| XM_006712477.2:c.-85+13243G>T | XP_006712540.1:n.-85+13243G>T |