COSMIC:
COSN18725326 (not active)
COSN18725500 (not active)
COSN18725671 (not active)
COSN18725834 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.39212672 (AMR)
Genomes Max Group AF
0.34425541 (AMR)
Exomes Max Group AF
0.40683706 (AMR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.209615169G>A , CM000663.2:g.209615169G>A | GRCh38 |
| NC_000001.10:g.209788514G>A , CM000663.1:g.209788514G>A | GRCh37 |
| NC_000001.9:g.207855137G>A | NCBI36 |
| NG_007116.1:g.42307C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356082.9:c.*102C>T MANE Select | ENSP00000348384.3:n.*102C>T | |
| ENST00000356082.8:c.*102C>T | ENSP00000348384.3:n.*102C>T | |
| ENST00000367030.7:c.*102C>T | ENSP00000355997.3:n.*102C>T | |
| ENST00000391911.5:c.*102C>T | ENSP00000375778.1:n.*102C>T | |
| NM_000228.2:c.*102C>T | NP_000219.2:n.*102C>T | |
| NM_001017402.1:c.*102C>T | NP_001017402.1:n.*102C>T | |
| NM_001127641.1:c.*102C>T | NP_001121113.1:n.*102C>T | |
| XM_005273124.3:c.*102C>T | XP_005273181.1:n.*102C>T | |
| XM_005273124.4:c.*102C>T | XP_005273181.1:n.*102C>T | |
| XM_017001272.2:c.*102C>T | XP_016856761.1:n.*102C>T | |
| NM_000228.3:c.*102C>T MANE Select | NP_000219.2:n.*102C>T | |
| NM_001017402.2:c.*102C>T | NP_001017402.1:n.*102C>T |