COSMIC:
COSN26571430 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.57294708 (AFR)
Genomes Max Group AF
0.56084999 (AFR)
Exomes Max Group AF
0.58460715 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.139146961C>T , CM000669.2:g.139146961C>T | GRCh38 |
| NC_000007.13:g.138831707C>T , CM000669.1:g.138831707C>T | GRCh37 |
| NC_000007.12:g.138482247C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343187.8:c.307-184C>T | ENSP00000339135.4:n.307-184C>T | |
| ENST00000430935.5:c.400-184C>T | ENSP00000410655.1:n.400-184C>T | |
| ENST00000464848.5:c.400-184C>T MANE Select | ENSP00000419279.1:n.400-184C>T | |
| ENST00000468866.1:n.365-184C>T | ||
| ENST00000474035.6:c.400-184C>T | ENSP00000443253.1:n.400-184C>T | |
| ENST00000476296.1:c.400-23C>T | ENSP00000419639.1:n.400-23C>T | |
| ENST00000478836.6:c.399+4656C>T | ENSP00000419178.2:n.399+4656C>T | |
| ENST00000479132.5:n.411-23C>T | ||
| ENST00000481482.5:n.478-184C>T | ||
| ENST00000495038.5:c.399+4656C>T | ENSP00000418788.1:n.399+4656C>T | |
| NM_001144920.2:c.400-184C>T | NP_001138392.1:n.400-184C>T | |
| NM_001144923.2:c.307-184C>T | NP_001138395.1:n.307-184C>T | |
| NM_001287512.1:c.399+4656C>T | NP_001274441.1:n.399+4656C>T | |
| NM_001287513.1:c.85-184C>T | NP_001274442.1:n.85-184C>T | |
| NM_024926.3:c.400-184C>T | NP_079202.2:n.400-184C>T | |
| XM_005250608.3:c.-182-23C>T | XP_005250665.1:n.-182-23C>T | |
| XM_006716135.2:c.399+4656C>T | XP_006716198.1:n.399+4656C>T | |
| XM_011516584.1:c.400-184C>T | XP_011514886.1:n.400-184C>T | |
| NM_001318333.1:c.-182-23C>T | NP_001305262.1:n.-182-23C>T | |
| NM_001321740.1:c.400-184C>T | NP_001308669.1:n.400-184C>T | |
| NM_001321741.1:c.399+4656C>T | NP_001308670.1:n.399+4656C>T | |
| NM_001321742.1:c.400-184C>T | NP_001308671.1:n.400-184C>T | |
| NM_024926.4:c.400-184C>T MANE Select | NP_079202.2:n.400-184C>T | |
| NM_001144923.3:c.307-184C>T | NP_001138395.1:n.307-184C>T | |
| NM_001287512.2:c.399+4656C>T | NP_001274441.1:n.399+4656C>T | |
| NM_001287513.2:c.85-184C>T | NP_001274442.1:n.85-184C>T | |
| NM_001318333.2:c.-182-23C>T | NP_001305262.1:n.-182-23C>T | |
| NM_001321740.2:c.400-184C>T | NP_001308669.1:n.400-184C>T | |
| NM_001321741.2:c.399+4656C>T | NP_001308670.1:n.399+4656C>T | |
| NM_001144920.3:c.400-184C>T | NP_001138392.1:n.400-184C>T | |
| NM_001321742.2:c.400-184C>T | NP_001308671.1:n.400-184C>T |