COSMIC:
COSN16217071 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.18799551 (NFE)
Genomes Max Group AF
0.18799551 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.111436706C>T , CM000667.2:g.111436706C>T | GRCh38 |
| NC_000005.9:g.110772404C>T , CM000667.1:g.110772404C>T | GRCh37 |
| NC_000005.8:g.110800303C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282356.9:c.460-9980C>T MANE Select | ENSP00000282356.4:n.460-9980C>T | |
| ENST00000282356.8:c.460-9980C>T | ENSP00000282356.4:n.460-9980C>T | |
| ENST00000502916.5:n.384-9980C>T | ||
| ENST00000504544.5:c.*47-9980C>T | ENSP00000423761.1:n.*47-9980C>T | |
| ENST00000505763.1:n.360-9980C>T | ||
| ENST00000512453.5:c.460-9980C>T | ENSP00000422634.1:n.460-9980C>T | |
| ENST00000514007.5:c.*47-9980C>T | ENSP00000421606.1:n.*47-9980C>T | |
| ENST00000515231.5:c.*47-9980C>T | ENSP00000424912.1:n.*47-9980C>T | |
| NM_001744.4:c.460-9980C>T | NP_001735.1:n.460-9980C>T | |
| XR_948301.1:n.518-9980C>T | ||
| XR_948302.1:n.518-9980C>T | ||
| XR_948303.1:n.518-9980C>T | ||
| NM_001323374.1:c.460-9980C>T | NP_001310303.1:n.460-9980C>T | |
| NM_001323375.1:c.460-9980C>T | NP_001310304.1:n.460-9980C>T | |
| NM_001323376.1:c.-132-9980C>T | NP_001310305.1:n.-132-9980C>T | |
| NM_001323377.1:c.-132-9980C>T | NP_001310306.1:n.-132-9980C>T | |
| NM_001744.5:c.460-9980C>T | NP_001735.1:n.460-9980C>T | |
| XR_001742281.2:n.560-9980C>T | ||
| XR_001742282.2:n.560-9980C>T | ||
| XR_948303.2:n.560-9980C>T | ||
| NM_001744.6:c.460-9980C>T MANE Select | NP_001735.1:n.460-9980C>T | |
| NM_001323374.2:c.460-9980C>T | NP_001310303.1:n.460-9980C>T | |
| NM_001323375.2:c.460-9980C>T | NP_001310304.1:n.460-9980C>T | |
| NM_001323376.2:c.-132-9980C>T | NP_001310305.1:n.-132-9980C>T | |
| NM_001323377.2:c.-132-9980C>T | NP_001310306.1:n.-132-9980C>T |