ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0005777 (AFR)
Genomes Max Group AF
0.00055967 (AFR)
Exomes Max Group AF
0.00046904 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.18122094G>A , CM000668.2:g.18122094G>A | GRCh38 |
| NC_000006.11:g.18122325G>A , CM000668.1:g.18122325G>A | GRCh37 |
| NC_000006.10:g.18230304G>A | NCBI36 |
| NG_016750.1:g.5527C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340650.6:c.513C>T MANE Select | ENSP00000345464.3:p.Ala171= | |
| ENST00000340650.4:c.513C>T | ENSP00000345464.3:p.Ala171= | |
| NM_198586.2:c.513C>T | NP_940988.2:p.Ala171= | |
| NM_198586.3:c.513C>T MANE Select | NP_940988.2:p.Ala171= |