COSMIC:
COSM4984841 (not active)
Revel Score:
ENST00000370449
0.106
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.15799921 (AFR)
Genomes Max Group AF
0.15527562 (AFR)
Exomes Max Group AF
0.15916955 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99851537G>A , CM000672.2:g.99851537G>A | GRCh38 |
| NC_000010.10:g.101611294G>A , CM000672.1:g.101611294G>A | GRCh37 |
| NC_000010.9:g.101601284G>A | NCBI36 |
| NG_011798.1:g.73832G>A | |
| NG_011798.2:g.73940G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647814.1:c.4544G>A MANE Select | ENSP00000497274.1:p.Cys1515Tyr | |
| ENST00000648523.1:c.614G>A | ||
| ENST00000370449.8:c.4544G>A | ENSP00000359478.4:p.Cys1515Tyr | |
| NM_000392.4:c.4544G>A | NP_000383.1:p.Cys1515Tyr | |
| XM_006717630.2:c.3848G>A | XP_006717693.1:p.Cys1283Tyr | |
| NM_000392.5:c.4544G>A MANE Select | NP_000383.2:p.Cys1515Tyr | |
| XM_006717630.3:c.3848G>A | XP_006717693.1:p.Cys1283Tyr |