COSMIC:
COSN15656474 (not active)
COSN15660232 (not active)
COSN26633975 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.47797076 (AFR)
Genomes Max Group AF
0.46929099 (AFR)
Exomes Max Group AF
0.48491503 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.117409656G>A , CM000668.2:g.117409656G>A | GRCh38 |
| NC_000006.11:g.117730819G>A , CM000668.1:g.117730819G>A | GRCh37 |
| NC_000006.10:g.117837512G>A | NCBI36 |
| NG_033929.1:g.21200C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368507.8:c.256-14C>T MANE Select | ENSP00000357493.3:n.256-14C>T | |
| ENST00000368507.7:c.256-14C>T | ENSP00000357493.3:n.256-14C>T | |
| ENST00000368508.7:c.229-14C>T | ENSP00000357494.3:n.229-14C>T | |
| ENST00000467125.1:c.548-88262C>T | ENSP00000487717.1:n.548-88262C>T | |
| NM_002944.2:c.229-14C>T | NP_002935.2:n.229-14C>T | |
| XM_006715548.2:c.256-14C>T | XP_006715611.1:n.256-14C>T | |
| XM_011536049.1:c.256-14C>T | XP_011534351.1:n.256-14C>T | |
| XM_011536050.1:c.256-14C>T | XP_011534352.1:n.256-14C>T | |
| XM_011536051.1:c.229-14C>T | XP_011534353.1:n.229-14C>T | |
| XM_011536052.1:c.256-14C>T | XP_011534354.1:n.256-14C>T | |
| XM_011536053.1:c.256-14C>T | XP_011534355.1:n.256-14C>T | |
| XM_011536054.1:c.256-14C>T | XP_011534356.1:n.256-14C>T | |
| XM_011536055.1:c.256-14C>T | XP_011534357.1:n.256-14C>T | |
| XM_011536056.1:c.256-14C>T | XP_011534358.1:n.256-14C>T | |
| XM_011536057.1:c.256-14C>T | XP_011534359.1:n.256-14C>T | |
| XM_011536058.1:c.256-14C>T | XP_011534360.1:n.256-14C>T | |
| XM_006715548.4:c.256-14C>T | XP_006715611.1:n.256-14C>T | |
| XM_011536049.2:c.256-14C>T | XP_011534351.1:n.256-14C>T | |
| XM_011536050.2:c.256-14C>T | XP_011534352.1:n.256-14C>T | |
| XM_011536051.2:c.229-14C>T | XP_011534353.1:n.229-14C>T | |
| XM_011536052.2:c.256-14C>T | XP_011534354.1:n.256-14C>T | |
| XM_011536053.2:c.256-14C>T | XP_011534355.1:n.256-14C>T | |
| XM_011536054.2:c.256-14C>T | XP_011534356.1:n.256-14C>T | |
| XM_011536055.2:c.256-14C>T | XP_011534357.1:n.256-14C>T | |
| XM_011536056.2:c.256-14C>T | XP_011534358.1:n.256-14C>T | |
| XM_011536057.3:c.256-14C>T | XP_011534359.1:n.256-14C>T | |
| XM_011536058.2:c.256-14C>T | XP_011534360.1:n.256-14C>T | |
| XM_017011172.1:c.229-14C>T | XP_016866661.1:n.229-14C>T | |
| XM_017011173.1:c.229-14C>T | XP_016866662.1:n.229-14C>T | |
| NM_001378891.1:c.256-14C>T | NP_001365820.1:n.256-14C>T | |
| NM_001378902.1:c.256-14C>T MANE Select | NP_001365831.1:n.256-14C>T | |
| NM_002944.3:c.229-14C>T | NP_002935.2:n.229-14C>T |