gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00016812 (NFE)
Genomes Max Group AF
0.00014674 (NFE)
Exomes Max Group AF
0.0001649 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67611125C>T , CM000673.2:g.67611125C>T | GRCh38 |
| NC_000011.9:g.67378596C>T , CM000673.1:g.67378596C>T | GRCh37 |
| NC_000011.8:g.67135172C>T | NCBI36 |
| NG_013353.1:g.9274C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322776.11:c.831C>T MANE Select | ENSP00000322450.6:p.Asn277= | |
| ENST00000647561.1:c.831C>T | ENSP00000497587.1:p.Asn277= | |
| ENST00000322776.10:c.831C>T | ENSP00000322450.6:p.Asn277= | |
| ENST00000415352.6:c.810C>T | ENSP00000395368.2:p.Asn270= | |
| ENST00000526169.1:n.573C>T | ||
| ENST00000526770.5:n.1114C>T | ||
| ENST00000527355.5:c.120C>T | ENSP00000432637.1:p.Asn40= | |
| ENST00000529927.5:c.804C>T | ENSP00000436766.1:p.Asn268= | |
| ENST00000532303.5:c.528C>T | ENSP00000432015.1:p.Asn176= | |
| ENST00000533919.5:c.309C>T | ENSP00000435199.1:p.Asn103= | |
| NM_001166102.1:c.804C>T | NP_001159574.1:p.Asn268= | |
| NM_007103.3:c.831C>T | NP_009034.2:p.Asn277= | |
| NM_001166102.2:c.804C>T | NP_001159574.1:p.Asn268= | |
| NM_007103.4:c.831C>T MANE Select | NP_009034.2:p.Asn277= |