ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000547 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00000459 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128634726C>T , CM000671.2:g.128634726C>T | GRCh38 |
| NC_000009.11:g.131397005C>T , CM000671.1:g.131397005C>T | GRCh37 |
| NC_000009.10:g.130436826C>T | NCBI36 |
| NG_027748.1:g.87169C>T | |
| NG_034056.1:g.27125G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372715.7:c.1177G>A MANE Select | ENSP00000361800.2:p.Gly393Ser | |
| ENST00000372715.6:c.1177G>A | ENSP00000361800.2:p.Gly393Ser | |
| ENST00000483181.1:n.770G>A | ||
| NM_052844.3:c.1177G>A | NP_443076.2:p.Gly393Ser | |
| XM_011519179.1:c.1093G>A | XP_011517481.1:p.Gly365Ser | |
| XM_011519179.2:c.1093G>A | XP_011517481.1:p.Gly365Ser | |
| NM_052844.4:c.1177G>A MANE Select | NP_443076.2:p.Gly393Ser |