COSMIC:
COSN14788658 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.32306831 (NFE)
Genomes Max Group AF
0.32306831 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.60348958T>C , CM000667.2:g.60348958T>C | GRCh38 |
| NC_000005.9:g.59644785T>C , CM000667.1:g.59644785T>C | GRCh37 |
| NC_000005.8:g.59680542T>C | NCBI36 |
| NG_027957.1:g.144141A>G | |
| NG_027957.2:g.180372A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502484.6:c.-90+138984A>G | ENSP00000423094.2:n.-90+138984A>G | |
| ENST00000505507.6:c.-213+138984A>G | ENSP00000425910.2:n.-213+138984A>G | |
| ENST00000506024.5:n.71+99679A>G | ||
| ENST00000506510.6:n.71-163271A>G | ||
| ENST00000509355.5:n.157+138984A>G | ||
| ENST00000511382.1:n.125-13828A>G | ||
| ENST00000514552.5:c.-90+23576A>G | ENSP00000421829.1:n.-90+23576A>G | |
| ENST00000515835.2:c.-213+138984A>G | ENSP00000424281.2:n.-213+138984A>G | |
| NM_001165899.1:c.-90+138984A>G | NP_001159371.1:n.-90+138984A>G | |
| XM_011543472.1:c.-89-163271A>G | XP_011541774.1:n.-89-163271A>G | |
| XM_011543473.1:c.-90+99679A>G | XP_011541775.1:n.-90+99679A>G | |
| NM_001349241.1:c.-193+138984A>G | NP_001336170.1:n.-193+138984A>G | |
| NM_001349243.1:c.-674+138984A>G | NP_001336172.1:n.-674+138984A>G | |
| NM_001364599.1:c.-90+147181A>G | NP_001351528.1:n.-90+147181A>G | |
| NM_001364600.1:c.-90+23576A>G | NP_001351529.1:n.-90+23576A>G | |
| XM_017009566.1:c.-138-13828A>G | XP_016865055.1:n.-138-13828A>G | |
| XM_024446110.1:c.-89-163271A>G | XP_024301878.1:n.-89-163271A>G | |
| XM_024446112.1:c.-89-163271A>G | XP_024301880.1:n.-89-163271A>G | |
| NM_001165899.2:c.-90+138984A>G | NP_001159371.1:n.-90+138984A>G | |
| NM_001349241.2:c.-193+138984A>G | NP_001336170.1:n.-193+138984A>G | |
| NM_001349243.2:c.-674+138984A>G | NP_001336172.1:n.-674+138984A>G | |
| NM_001364600.2:c.-90+23576A>G | NP_001351529.1:n.-90+23576A>G |