gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00009058 (NFE)
Genomes Max Group AF
0.00011224 (NFE)
Exomes Max Group AF
0.00008532 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94429268C>T , CM000669.2:g.94429268C>T | GRCh38 |
| NC_000007.13:g.94058580C>T , CM000669.1:g.94058580C>T | GRCh37 |
| NC_000007.12:g.93896516C>T | NCBI36 |
| NG_007405.1:g.39708C>T , LRG_2:g.39708C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.3792C>T MANE Select | ENSP00000297268.6:p.Ala1264= | |
| ENST00000297268.10:c.3792C>T | ENSP00000297268.6:p.Ala1264= | |
| ENST00000464916.1:n.840C>T | ||
| ENST00000481570.5:n.4573C>T | ||
| ENST00000620463.1:c.3786C>T | ENSP00000477719.1:p.Ala1262= | |
| NM_000089.3:c.3792C>T , LRG_2t1:c.3792C>T | NP_000080.2:p.Ala1264= | |
| NM_000089.4:c.3792C>T MANE Select | NP_000080.2:p.Ala1264= |