COSMIC:
COSN20408734 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.55432435 (NFE)
Genomes Max Group AF
0.55432435 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.18444140C>T , CM000671.2:g.18444140C>T | GRCh38 |
| NC_000009.11:g.18444138C>T , CM000671.1:g.18444138C>T | GRCh37 |
| NC_000009.10:g.18434138C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000680146.1:c.208-60689C>T | ENSP00000505591.1:n.208-60689C>T | |
| XM_011518063.1:c.262-60689C>T | XP_011516365.1:n.262-60689C>T | |
| XM_011518064.1:c.217-60689C>T | XP_011516366.1:n.217-60689C>T | |
| XM_011518065.1:c.184-60689C>T | XP_011516367.1:n.184-60689C>T | |
| XM_011518066.1:c.-387-60689C>T | XP_011516368.1:n.-387-60689C>T | |
| XM_011518063.2:c.262-60689C>T | XP_011516365.1:n.262-60689C>T | |
| XM_011518064.3:c.217-60689C>T | XP_011516366.1:n.217-60689C>T | |
| XM_017015310.1:c.220-60689C>T | XP_016870799.1:n.220-60689C>T | |
| XM_017015311.1:c.262-60689C>T | XP_016870800.1:n.262-60689C>T | |
| XM_017015312.2:c.217-60689C>T | XP_016870801.1:n.217-60689C>T | |
| XM_017015313.1:c.-387-60689C>T | XP_016870802.1:n.-387-60689C>T | |
| XM_017015314.1:c.262-60689C>T | XP_016870803.1:n.262-60689C>T |