gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.92055904 (EAS)
Genomes Max Group AF
0.88681108 (EAS)
Exomes Max Group AF
0.92261376 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45362129A>G , CM000677.2:g.45362129A>G | GRCh38 |
| NC_000015.9:g.45654327A>G , CM000677.1:g.45654327A>G | GRCh37 |
| NC_000015.8:g.43441619A>G | NCBI36 |
| NG_011674.1:g.21654T>C | |
| NG_011674.2:g.45189T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396659.8:c.1252T>C MANE Select | ENSP00000379895.3:p.Leu418= | |
| ENST00000674905.1:c.*214T>C | ENSP00000502176.1:n.*214T>C | |
| ENST00000675158.1:c.*152T>C | ENSP00000501737.1:n.*152T>C | |
| ENST00000675323.1:c.*1754T>C | ENSP00000502445.1:n.*1754T>C | |
| ENST00000675701.1:c.1192T>C | ENSP00000502671.1:p.Leu398= | |
| ENST00000675974.1:n.3801T>C | ||
| ENST00000676090.1:c.*1983T>C | ENSP00000501630.1:n.*1983T>C | |
| ENST00000396659.7:c.1252T>C | ENSP00000379895.3:p.Leu418= | |
| ENST00000558362.5:n.2908T>C | ||
| NM_001482.2:c.1252T>C | NP_001473.1:p.Leu418= | |
| XM_011521450.1:c.1300T>C | XP_011519752.1:p.Leu434= | |
| XM_011521451.1:c.1294T>C | XP_011519753.1:p.Leu432= | |
| NM_001321015.1:c.865T>C | NP_001307944.1:p.Leu289= | |
| NM_001482.3:c.1252T>C MANE Select | NP_001473.1:p.Leu418= | |
| NM_001321015.2:c.865T>C | NP_001307944.1:p.Leu289= |