gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00584729 (AFR)
Genomes Max Group AF
0.00588333 (AFR)
Exomes Max Group AF
0.00538058 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128946533G>A , CM000671.2:g.128946533G>A | GRCh38 |
| NC_000009.11:g.131708812G>A , CM000671.1:g.131708812G>A | GRCh37 |
| NC_000009.10:g.130748633G>A | NCBI36 |
| NG_017009.1:g.6201C>T , LRG_744:g.6201C>T | |
| NG_033111.1:g.3841G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372586.4:c.771C>T MANE Select | ENSP00000361667.3:p.Ile257= | |
| ENST00000372586.3:c.771C>T | ENSP00000361667.3:p.Ile257= | |
| ENST00000482796.1:c.39-2656G>A | ENSP00000417556.2:n.39-2656G>A | |
| NM_014908.3:c.771C>T , LRG_744t1:c.771C>T | NP_055723.1:p.Ile257= | |
| NM_014908.4:c.771C>T MANE Select | NP_055723.1:p.Ile257= |