gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00096639 (EAS)
Genomes Max Group AF
0.00054075 (SAS)
Exomes Max Group AF
0.00102521 (EAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130480397C>T , CM000671.2:g.130480397C>T | GRCh38 |
| NC_000009.11:g.133355784C>T , CM000671.1:g.133355784C>T | GRCh37 |
| NC_000009.10:g.132345605C>T | NCBI36 |
| NG_011542.1:g.40691C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352480.10:c.786C>T MANE Select | ENSP00000253004.6:p.Gly262= | |
| ENST00000352480.9:c.786C>T | ENSP00000253004.6:p.Gly262= | |
| ENST00000372386.6:n.57C>T | ||
| ENST00000372393.7:c.786C>T | ENSP00000361469.2:p.Gly262= | |
| ENST00000372394.5:c.786C>T | ENSP00000361471.1:p.Gly262= | |
| ENST00000470849.4:n.511C>T | ||
| ENST00000492400.5:n.295C>T | ||
| ENST00000493984.6:n.563C>T | ||
| NM_000050.4:c.786C>T | NP_000041.2:p.Gly262= | |
| NM_054012.3:c.786C>T | NP_446464.1:p.Gly262= | |
| XM_005272200.2:c.786C>T | XP_005272257.1:p.Gly262= | |
| XM_011518705.1:c.900C>T | XP_011517007.1:p.Gly300= | |
| XM_005272200.3:c.786C>T | XP_005272257.1:p.Gly262= | |
| XM_011518705.2:c.900C>T | XP_011517007.1:p.Gly300= | |
| XM_017014729.1:c.882C>T | XP_016870218.1:p.Gly294= | |
| NM_054012.4:c.786C>T MANE Select | NP_446464.1:p.Gly262= |