gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00004428 (NFE)
Exomes Max Group AF
0.00004907 (EAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89778220C>T , CM000677.2:g.89778220C>T | GRCh38 |
| NC_000015.9:g.90321451C>T , CM000677.1:g.90321451C>T | GRCh37 |
| NC_000015.8:g.88122455C>T | NCBI36 |
| NG_008608.1:g.6863C>T | |
| NG_008608.2:g.22630C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341735.5:c.1080C>T MANE Select | ENSP00000342392.3:p.Ala360= | |
| ENST00000341735.3:c.1080C>T | ENSP00000342392.3:p.Ala360= | |
| ENST00000558723.1:n.194C>T | ||
| ENST00000560219.2:c.186C>T | ENSP00000452998.1:p.Ala62= | |
| NM_001039958.1:c.1080C>T | NP_001035047.1:p.Ala360= | |
| NM_001039958.2:c.1080C>T MANE Select | NP_001035047.1:p.Ala360= |