gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.30837426 (AFR)
Genomes Max Group AF
0.3483789 (EAS)
Exomes Max Group AF
0.25267233 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94398387T>C , CM000669.2:g.94398387T>C | GRCh38 |
| NC_000007.13:g.94027699T>C , CM000669.1:g.94027699T>C | GRCh37 |
| NC_000007.12:g.93865635T>C | NCBI36 |
| NG_007405.1:g.8827T>C , LRG_2:g.8827T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.87T>C MANE Select | ENSP00000297268.6:p.Thr29= | |
| ENST00000297268.10:c.87T>C | ENSP00000297268.6:p.Thr29= | |
| ENST00000620463.1:c.81T>C | ENSP00000477719.1:p.Thr27= | |
| NM_000089.3:c.87T>C , LRG_2t1:c.87T>C | NP_000080.2:p.Thr29= | |
| NM_000089.4:c.87T>C MANE Select | NP_000080.2:p.Thr29= |