gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001724 (NFE)
Genomes Max Group AF
0.00000799 (AFR)
Exomes Max Group AF
0.0000183 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.235808970G>A , CM000663.2:g.235808970G>A | GRCh38 |
| NC_000001.10:g.235972270G>A , CM000663.1:g.235972270G>A | GRCh37 |
| NC_000001.9:g.234038893G>A | NCBI36 |
| NG_007397.1:g.79671C>T , LRG_143:g.79671C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697178.1:c.1848C>T | ENSP00000513163.1:p.Asn616= | |
| ENST00000697242.1:c.1251C>T | ENSP00000513207.1:p.Asn417= | |
| ENST00000389793.7:c.1848C>T MANE Select | ENSP00000374443.2:p.Asn616= | |
| ENST00000389793.6:c.1848C>T | ENSP00000374443.2:p.Asn616= | |
| ENST00000389794.7:c.1848C>T | ENSP00000374444.4:p.Asn616= | |
| ENST00000465349.5:n.2399C>T | ||
| ENST00000489585.5:n.2399C>T | ||
| NM_000081.3:c.1848C>T , LRG_143t1:c.1848C>T | NP_000072.2:p.Asn616= | |
| NM_001301365.1:c.1848C>T , LRG_143t2:c.1848C>T | NP_001288294.1:p.Asn616= | |
| XM_011544031.1:c.1848C>T | XP_011542333.1:p.Asn616= | |
| XM_011544032.1:c.1848C>T | XP_011542334.1:p.Asn616= | |
| XM_011544033.1:c.1848C>T | XP_011542335.1:p.Asn616= | |
| XM_011544034.1:c.1848C>T | XP_011542336.1:p.Asn616= | |
| XM_011544035.1:c.1848C>T | XP_011542337.1:p.Asn616= | |
| XM_011544037.1:c.1848C>T | XP_011542339.1:p.Asn616= | |
| XM_011544038.1:c.1848C>T | XP_011542340.1:p.Asn616= | |
| XM_011544039.1:c.1848C>T | XP_011542341.1:p.Asn616= | |
| XM_011544040.1:c.1848C>T | XP_011542342.1:p.Asn616= | |
| XM_011544033.2:c.1848C>T | XP_011542335.1:p.Asn616= | |
| XM_011544035.2:c.1848C>T | XP_011542337.1:p.Asn616= | |
| XM_011544037.2:c.1848C>T | XP_011542339.1:p.Asn616= | |
| XM_011544039.2:c.1848C>T | XP_011542341.1:p.Asn616= | |
| XM_017000150.1:c.1848C>T | XP_016855639.1:p.Asn616= | |
| XM_017000151.1:c.1848C>T | XP_016855640.1:p.Asn616= | |
| XR_001736946.2:n.2030C>T | ||
| XR_001736947.1:n.2030C>T | ||
| XR_001736948.1:n.2030C>T | ||
| XR_002959252.1:n.2030C>T | ||
| NM_000081.4:c.1848C>T MANE Select | NP_000072.2:p.Asn616= |