COSMIC:
COSN19747620 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.85711601 (EAS)
Genomes Max Group AF
0.84532008 (AFR)
Exomes Max Group AF
0.85981588 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6696331A>G , CM000681.2:g.6696331A>G | GRCh38 |
| NC_000019.9:g.6696342A>G , CM000681.1:g.6696342A>G | GRCh37 |
| NC_000019.8:g.6647342A>G | NCBI36 |
| NG_009557.1:g.29321T>C , LRG_27:g.29321T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.1298+48T>C | ||
| ENST00000695652.1:c.2827+48T>C | ENSP00000512083.1:n.2827+48T>C | |
| ENST00000695653.1:c.859+48T>C | ENSP00000512084.1:n.859+48T>C | |
| ENST00000695654.1:c.2074+48T>C | ENSP00000512085.1:n.2074+48T>C | |
| ENST00000695655.1:c.1891+48T>C | ENSP00000512086.1:n.1891+48T>C | |
| ENST00000695692.1:n.2314+48T>C | ||
| ENST00000245907.11:c.2950+48T>C MANE Select | ENSP00000245907.4:n.2950+48T>C | |
| ENST00000245907.10:c.2950+48T>C | ENSP00000245907.4:n.2950+48T>C | |
| NM_000064.3:c.2950+48T>C | NP_000055.2:n.2950+48T>C | |
| NM_000064.4:c.2950+48T>C MANE Select | NP_000055.2:n.2950+48T>C |