COSMIC:
COSN168315 (not active)
COSN8810669 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.34765839 (MID)
Genomes Max Group AF
0.33579952 (NFE)
Exomes Max Group AF
0.34195546 (MID)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.39920010C>T , CM000670.2:g.39920010C>T | GRCh38 |
| NC_000008.10:g.39777529C>T , CM000670.1:g.39777529C>T | GRCh37 |
| NC_000008.9:g.39896686C>T | NCBI36 |
| NG_028155.1:g.11202C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000518237.6:c.423-90C>T MANE Select | ENSP00000430950.1:n.423-90C>T | |
| ENST00000253513.11:c.433+1066C>T | ENSP00000253513.7:n.433+1066C>T | |
| ENST00000518237.5:c.423-90C>T | ENSP00000430950.1:n.423-90C>T | |
| ENST00000519154.5:c.423-90C>T | ENSP00000428716.1:n.423-90C>T | |
| ENST00000521636.1:n.326-90C>T | ||
| ENST00000522495.5:c.423-90C>T | ENSP00000430505.1:n.423-90C>T | |
| NM_002164.5:c.423-90C>T | NP_002155.1:n.423-90C>T | |
| NM_002164.6:c.423-90C>T MANE Select | NP_002155.1:n.423-90C>T |