gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00035433 (NFE)
Genomes Max Group AF
0.00025541 (NFE)
Exomes Max Group AF
0.00035443 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80086099C>T , CM000679.2:g.80086099C>T | GRCh38 |
| NC_000017.10:g.78059898C>T , CM000679.1:g.78059898C>T | GRCh37 |
| NC_000017.9:g.75674493C>T | NCBI36 |
| NG_029761.1:g.54468C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397545.9:c.2332C>T MANE Select | ENSP00000380679.4:p.Leu778= | |
| ENST00000374877.7:c.2332C>T | ENSP00000364011.3:p.Leu778= | |
| ENST00000397545.8:c.2332C>T | ENSP00000380679.4:p.Leu778= | |
| ENST00000572253.5:n.959C>T | ||
| ENST00000574799.5:n.1869C>T | ||
| NM_001243342.1:c.2332C>T | NP_001230271.1:p.Leu778= | |
| NM_017950.3:c.2332C>T | NP_060420.2:p.Leu778= | |
| XM_011524963.1:c.2242C>T | XP_011523265.1:p.Leu748= | |
| XM_011524964.1:c.1153C>T | XP_011523266.1:p.Leu385= | |
| XR_934495.1:n.2363C>T | ||
| XM_011524963.3:c.2242C>T | XP_011523265.1:p.Leu748= | |
| XM_011524964.3:c.1153C>T | XP_011523266.1:p.Leu385= | |
| XM_024450821.1:c.2242C>T | XP_024306589.1:p.Leu748= | |
| XR_001752550.2:n.2363C>T | ||
| XR_934495.2:n.2363C>T | ||
| NM_017950.4:c.2332C>T MANE Select | NP_060420.2:p.Leu778= | |
| NM_001243342.2:c.2332C>T | NP_001230271.1:p.Leu778= |