COSMIC:
COSN14795921 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.51954005 (SAS)
Genomes Max Group AF
0.51954005 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.168089888G>A , CM000668.2:g.168089888G>A | GRCh38 |
| NC_000006.11:g.168490568G>A , CM000668.1:g.168490568G>A | GRCh37 |
| NC_000006.10:g.168233417G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644440.1:c.-11-10864C>T | ENSP00000496464.1:n.-11-10864C>T | |
| ENST00000646385.1:c.-325+3083C>T | ENSP00000494166.1:n.-325+3083C>T | |
| XM_011536136.1:c.-325+3083C>T | XP_011534438.1:n.-325+3083C>T | |
| XM_011536138.1:c.10+3083C>T | XP_011534440.1:n.10+3083C>T | |
| XM_011536139.1:c.-11-10864C>T | XP_011534441.1:n.-11-10864C>T | |
| XM_011536143.1:c.-38+3083C>T | XP_011534445.1:n.-38+3083C>T | |
| XM_011536144.1:c.-37-10864C>T | XP_011534446.1:n.-37-10864C>T |