ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00301807 (AFR)
Genomes Max Group AF
0.00280159 (AFR)
Exomes Max Group AF
0.00298211 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48430705C>T , CM000677.2:g.48430705C>T | GRCh38 |
| NC_000015.9:g.48722902C>T , CM000677.1:g.48722902C>T | GRCh37 |
| NC_000015.8:g.46510194C>T | NCBI36 |
| NG_008805.2:g.220084G>A , LRG_778:g.220084G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.6837G>A | ENSP00000453958.2:p.Gly2279= | |
| ENST00000674301.2:c.*288G>A | ENSP00000501333.2:n.*288G>A | |
| ENST00000682170.1:n.446G>A | ||
| ENST00000316623.10:c.6837G>A MANE Select | ENSP00000325527.5:p.Gly2279= | |
| ENST00000674301.1:c.1941G>A | ENSP00000501333.1:n.1941G>A | |
| ENST00000316623.9:c.6837G>A | ENSP00000325527.5:p.Gly2279= | |
| ENST00000559133.5:c.2144G>A | ||
| ENST00000560720.1:n.124G>A | ||
| NM_000138.4:c.6837G>A , LRG_778t1:c.6837G>A | NP_000129.3:p.Gly2279= | |
| NM_000138.5:c.6837G>A MANE Select | NP_000129.3:p.Gly2279= |