gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000688 (NFE)
Exomes Max Group AF
0.00000652 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80099700C>A , CM000679.2:g.80099700C>A | GRCh38 |
| NC_000017.10:g.78073499C>A , CM000679.1:g.78073499C>A | GRCh37 |
| NC_000017.9:g.75688094C>A | NCBI36 |
| NG_009822.1:g.3145C>A , LRG_673:g.3145C>A | |
| NG_029761.1:g.68069C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397545.9:c.3354C>A MANE Select | ENSP00000380679.4:p.Tyr1118Ter | |
| ENST00000397545.8:c.3354C>A | ENSP00000380679.4:p.Tyr1118Ter | |
| ENST00000574799.5:n.2891C>A | ||
| NM_017950.3:c.3354C>A | NP_060420.2:p.Tyr1118Ter | |
| XM_011524963.1:c.3264C>A | XP_011523265.1:p.Tyr1088Ter | |
| XM_011524964.1:c.2175C>A | XP_011523266.1:p.Tyr725Ter | |
| XM_011524963.3:c.3264C>A | XP_011523265.1:p.Tyr1088Ter | |
| XM_011524964.3:c.2175C>A | XP_011523266.1:p.Tyr725Ter | |
| XM_024450821.1:c.3264C>A | XP_024306589.1:p.Tyr1088Ter | |
| XR_934495.2:n.3472C>A | ||
| NM_017950.4:c.3354C>A MANE Select | NP_060420.2:p.Tyr1118Ter |