COSMIC:
COSN14771162 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.52138735 (EAS)
Genomes Max Group AF
0.52138735 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157209309C>T , CM000667.2:g.157209309C>T | GRCh38 |
| NC_000005.9:g.156636320C>T , CM000667.1:g.156636320C>T | GRCh37 |
| NC_000005.8:g.156568898C>T | NCBI36 |
| NG_016276.1:g.33414C>T , LRG_189:g.33414C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696962.1:c.243+316C>T | ENSP00000513001.1:n.243+316C>T | |
| ENST00000422843.8:c.243+316C>T MANE Select | ENSP00000398655.4:n.243+316C>T | |
| ENST00000422843.7:c.243+316C>T | ENSP00000398655.3:n.243+316C>T | |
| ENST00000517779.1:c.243+316C>T | ENSP00000431054.1:n.243+316C>T | |
| ENST00000519402.5:n.378+316C>T | ||
| ENST00000520555.5:n.381+316C>T | ||
| ENST00000521769.5:c.-133+316C>T | ENSP00000430327.1:n.-133+316C>T | |
| NM_005546.3:c.243+316C>T , LRG_189t1:c.243+316C>T | NP_005537.3:n.243+316C>T | |
| NM_005546.4:c.243+316C>T MANE Select | NP_005537.3:n.243+316C>T |