COSMIC:
COSN19623193 (not active)
COSN20280549 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.62512095 (EAS)
Genomes Max Group AF
0.6234072 (EAS)
Exomes Max Group AF
0.62335397 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.55505279C>G , CM000678.2:g.55505279C>G | GRCh38 |
| NC_000016.9:g.55539191C>G , CM000678.1:g.55539191C>G | GRCh37 |
| NC_000016.8:g.54096692C>G | NCBI36 |
| NG_008989.1:g.31111C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219070.9:c.1880-60C>G MANE Select | ENSP00000219070.4:n.1880-60C>G | |
| ENST00000219070.8:c.1880-60C>G | ENSP00000219070.4:n.1880-60C>G | |
| ENST00000437642.6:c.1730-60C>G | ENSP00000394237.2:n.1730-60C>G | |
| ENST00000543485.5:c.1652-60C>G | ENSP00000444143.1:n.1652-60C>G | |
| ENST00000570308.5:c.1652-60C>G | ENSP00000461421.1:n.1652-60C>G | |
| NM_001127891.2:c.1730-60C>G | NP_001121363.1:n.1730-60C>G | |
| NM_001302508.1:c.1652-60C>G | NP_001289437.1:n.1652-60C>G | |
| NM_001302509.1:c.1652-60C>G | NP_001289438.1:n.1652-60C>G | |
| NM_001302510.1:c.1652-60C>G | NP_001289439.1:n.1652-60C>G | |
| NM_004530.5:c.1880-60C>G | NP_004521.1:n.1880-60C>G | |
| NM_004530.6:c.1880-60C>G MANE Select | NP_004521.1:n.1880-60C>G | |
| NM_001127891.3:c.1730-60C>G | NP_001121363.1:n.1730-60C>G | |
| NM_001302509.2:c.1652-60C>G | NP_001289438.1:n.1652-60C>G | |
| NM_001302510.2:c.1652-60C>G | NP_001289439.1:n.1652-60C>G |