COSMIC:
COSN17603382 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.24124186 (NFE)
Genomes Max Group AF
0.24124186 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.9433053G>A , CM000679.2:g.9433053G>A | GRCh38 |
| NC_000017.10:g.9336370G>A , CM000679.1:g.9336370G>A | GRCh37 |
| NC_000017.9:g.9277095G>A | NCBI36 |
| NG_047110.1:g.147906C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306357.9:c.542-54400C>T MANE Select | ENSP00000305255.2:n.542-54400C>T | |
| ENST00000306357.8:c.542-54400C>T | ENSP00000305255.2:n.542-54400C>T | |
| ENST00000570583.5:n.93+4744C>T | ||
| ENST00000574431.5:c.209-54400C>T | ENSP00000467749.1:n.209-54400C>T | |
| ENST00000574775.1:n.38-54400C>T | ||
| ENST00000575294.6:c.*55-54400C>T | ENSP00000468093.1:n.*55-54400C>T | |
| ENST00000575858.5:c.*201-54400C>T | ENSP00000460355.1:n.*201-54400C>T | |
| NM_004853.2:c.542-54400C>T | NP_004844.1:n.542-54400C>T | |
| NR_033656.1:n.486-54400C>T | ||
| XM_011524079.1:c.377-54400C>T | XP_011522381.1:n.377-54400C>T | |
| XR_934120.1:n.718+4744C>T | ||
| XM_011524079.2:c.377-54400C>T | XP_011522381.1:n.377-54400C>T | |
| XR_934120.2:n.718+4744C>T | ||
| NM_004853.3:c.542-54400C>T MANE Select | NP_004844.1:n.542-54400C>T | |
| NR_033656.2:n.348-54400C>T |