COSMIC:
COSN20415416 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.57141329 (SAS)
Genomes Max Group AF
0.57141329 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.113234969C>A , CM000671.2:g.113234969C>A | GRCh38 |
| NC_000009.11:g.115997249C>A , CM000671.1:g.115997249C>A | GRCh37 |
| NC_000009.10:g.115037070C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374212.5:c.-36+13291C>A MANE Select | ENSP00000363329.4:n.-36+13291C>A | |
| ENST00000374212.4:c.-36+13291C>A | ENSP00000363329.4:n.-36+13291C>A | |
| NM_001859.3:c.-36+13291C>A | NP_001850.1:n.-36+13291C>A | |
| XR_002956933.1:n.167-11644G>T | ||
| NM_001859.4:c.-36+13291C>A MANE Select | NP_001850.1:n.-36+13291C>A |