COSMIC:
COSN23615897 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.07456022 (AFR)
Genomes Max Group AF
0.07456022 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.92399876C>T , CM000666.2:g.92399876C>T | GRCh38 |
| NC_000004.11:g.93321027C>T , CM000666.1:g.93321027C>T | GRCh37 |
| NC_000004.10:g.93540050C>T | NCBI36 |
| NG_034113.1:g.100478C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282020.9:c.88+95132C>T MANE Select | ENSP00000282020.4:n.88+95132C>T | |
| ENST00000282020.8:c.88+95132C>T | ENSP00000282020.4:n.88+95132C>T | |
| ENST00000505687.5:n.260+95132C>T | ||
| ENST00000510992.5:c.88+95132C>T | ENSP00000421257.1:n.88+95132C>T | |
| NM_001286838.1:c.88+95132C>T | NP_001273767.1:n.88+95132C>T | |
| NM_001510.3:c.88+95132C>T | NP_001501.2:n.88+95132C>T | |
| XM_017008122.2:c.88+95132C>T | XP_016863611.1:n.88+95132C>T | |
| XM_024454024.1:c.88+95132C>T | XP_024309792.1:n.88+95132C>T | |
| NM_001510.4:c.88+95132C>T MANE Select | NP_001501.2:n.88+95132C>T |