gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00038918 (EAS)
Genomes Max Group AF
0.00026262 (EAS)
Exomes Max Group AF
0.0003543 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.39216209T>C , CM000666.2:g.39216209T>C | GRCh38 |
| NC_000004.11:g.39217829T>C , CM000666.1:g.39217829T>C | GRCh37 |
| NC_000004.10:g.38894224T>C | NCBI36 |
| NG_031813.1:g.38806T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399820.8:c.1248T>C MANE Select | ENSP00000382717.3:p.Asn416= | |
| ENST00000399820.7:c.1248T>C | ENSP00000382717.3:p.Asn416= | |
| ENST00000506503.1:c.1248T>C | ENSP00000423491.1:p.Asn416= | |
| ENST00000506869.5:c.*829T>C | ENSP00000424319.1:n.*829T>C | |
| ENST00000511729.5:n.41-12349T>C | ||
| ENST00000512095.5:n.246T>C | ||
| NM_025132.3:c.1248T>C | NP_079408.3:p.Asn416= | |
| XM_011513724.1:c.1248T>C | XP_011512026.1:p.Asn416= | |
| XM_011513725.1:c.1182T>C | XP_011512027.1:p.Asn394= | |
| XM_011513726.1:c.768T>C | XP_011512028.1:p.Asn256= | |
| XM_011513727.1:c.768T>C | XP_011512029.1:p.Asn256= | |
| XM_011513728.1:c.768T>C | XP_011512030.1:p.Asn256= | |
| XM_011513729.1:c.1248T>C | XP_011512031.1:p.Asn416= | |
| XR_925155.1:n.1312T>C | ||
| NM_001317924.1:c.768T>C | NP_001304853.1:p.Asn256= | |
| XM_011513725.2:c.1182T>C | XP_011512027.1:p.Asn394= | |
| XM_011513726.3:c.768T>C | XP_011512028.1:p.Asn256= | |
| XM_017008501.1:c.768T>C | XP_016863990.1:p.Asn256= | |
| XR_001741306.1:n.1312T>C | ||
| XR_001741307.1:n.1312T>C | ||
| XR_001741308.1:n.1312T>C | ||
| XR_001741309.1:n.1312T>C | ||
| XR_001741310.1:n.1312T>C | ||
| XR_001741311.2:n.1161T>C | ||
| XR_001741312.1:n.1312T>C | ||
| NM_025132.4:c.1248T>C MANE Select | NP_079408.3:p.Asn416= | |
| NM_001317924.2:c.768T>C | NP_001304853.1:p.Asn256= |