gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00106482 (NFE)
Genomes Max Group AF
0.00095462 (NFE)
Exomes Max Group AF
0.00105978 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.39216159C>T , CM000666.2:g.39216159C>T | GRCh38 |
| NC_000004.11:g.39217779C>T , CM000666.1:g.39217779C>T | GRCh37 |
| NC_000004.10:g.38894174C>T | NCBI36 |
| NG_031813.1:g.38756C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399820.8:c.1198C>T MANE Select | ENSP00000382717.3:p.Leu400= | |
| ENST00000399820.7:c.1198C>T | ENSP00000382717.3:p.Leu400= | |
| ENST00000506503.1:c.1198C>T | ENSP00000423491.1:p.Leu400= | |
| ENST00000506869.5:c.*779C>T | ENSP00000424319.1:n.*779C>T | |
| ENST00000511729.5:n.41-12399C>T | ||
| ENST00000512095.5:n.196C>T | ||
| NM_025132.3:c.1198C>T | NP_079408.3:p.Leu400= | |
| XM_011513724.1:c.1198C>T | XP_011512026.1:p.Leu400= | |
| XM_011513725.1:c.1132C>T | XP_011512027.1:p.Leu378= | |
| XM_011513726.1:c.718C>T | XP_011512028.1:p.Leu240= | |
| XM_011513727.1:c.718C>T | XP_011512029.1:p.Leu240= | |
| XM_011513728.1:c.718C>T | XP_011512030.1:p.Leu240= | |
| XM_011513729.1:c.1198C>T | XP_011512031.1:p.Leu400= | |
| XR_925155.1:n.1262C>T | ||
| NM_001317924.1:c.718C>T | NP_001304853.1:p.Leu240= | |
| XM_011513725.2:c.1132C>T | XP_011512027.1:p.Leu378= | |
| XM_011513726.3:c.718C>T | XP_011512028.1:p.Leu240= | |
| XM_017008501.1:c.718C>T | XP_016863990.1:p.Leu240= | |
| XR_001741306.1:n.1262C>T | ||
| XR_001741307.1:n.1262C>T | ||
| XR_001741308.1:n.1262C>T | ||
| XR_001741309.1:n.1262C>T | ||
| XR_001741310.1:n.1262C>T | ||
| XR_001741311.2:n.1111C>T | ||
| XR_001741312.1:n.1262C>T | ||
| NM_025132.4:c.1198C>T MANE Select | NP_079408.3:p.Leu400= | |
| NM_001317924.2:c.718C>T | NP_001304853.1:p.Leu240= |