COSMIC:
COSN17133343 (not active)
COSN17135070 (not active)
COSN17137840 (not active)
COSN17139656 (not active)
COSN17140519 (not active)
COSN17141365 (not active)
COSN17142710 (not active)
COSN17143588 (not active)
COSN17145392 (not active)
COSN17146324 (not active)
COSN17147211 (not active)
COSN17148097 (not active)
COSN17149923 (not active)
COSN17150790 (not active)
COSN17151838 (not active)
COSN17152815 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.68515967 (SAS)
Genomes Max Group AF
0.68515967 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.48927093T>C , CM000680.2:g.48927093T>C | GRCh38 |
| NC_000018.9:g.46453463T>C , CM000680.1:g.46453463T>C | GRCh37 |
| NC_000018.8:g.44707461T>C | NCBI36 |
| NG_023330.1:g.28619A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262158.8:c.743-5183A>G MANE Select | ENSP00000262158.2:n.743-5183A>G | |
| ENST00000262158.7:c.743-5183A>G | ENSP00000262158.2:n.743-5183A>G | |
| ENST00000262158.6:c.743-5183A>G | ENSP00000262158.2:n.743-5183A>G | |
| ENST00000545051.2:n.328-5183A>G | ||
| ENST00000585986.1:n.154-5183A>G | ||
| ENST00000586093.1:c.98-5183A>G | ENSP00000465590.1:n.98-5183A>G | |
| ENST00000587336.1:n.49+3041A>G | ||
| ENST00000588190.1:n.132-5183A>G | ||
| ENST00000589634.1:c.740-5183A>G | ENSP00000467621.1:n.740-5183A>G | |
| ENST00000591805.5:c.98-5183A>G | ENSP00000466902.1:n.98-5183A>G | |
| NM_001190821.1:c.740-5183A>G | NP_001177750.1:n.740-5183A>G | |
| NM_001190822.1:c.98-5183A>G | NP_001177751.1:n.98-5183A>G | |
| NM_001190823.1:c.179-5183A>G | NP_001177752.1:n.179-5183A>G | |
| NM_005904.3:c.743-5183A>G | NP_005895.1:n.743-5183A>G | |
| NM_001190822.2:c.98-5183A>G | NP_001177751.1:n.98-5183A>G | |
| NM_001190821.2:c.740-5183A>G | NP_001177750.1:n.740-5183A>G | |
| NM_001190823.2:c.179-5183A>G | NP_001177752.1:n.179-5183A>G | |
| NM_005904.4:c.743-5183A>G MANE Select | NP_005895.1:n.743-5183A>G |