ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00116751 (EAS)
Genomes Max Group AF
0.00224854 (EAS)
Exomes Max Group AF
0.00091582 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197088321C>T , CM000663.2:g.197088321C>T | GRCh38 |
| NC_000001.10:g.197057451C>T , CM000663.1:g.197057451C>T | GRCh37 |
| NC_000001.9:g.195324074C>T | NCBI36 |
| NG_015867.1:g.63374G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367408.6:n.3383G>A | ||
| ENST00000367409.9:c.10096G>A MANE Select | ENSP00000356379.4:p.Gly3366Arg | |
| ENST00000680265.1:c.10318G>A | ENSP00000505384.1:p.Gly3440Arg | |
| ENST00000680710.1:c.10072G>A | ENSP00000506676.1:p.Gly3358Arg | |
| ENST00000294732.11:c.5341G>A | ENSP00000294732.7:p.Gly1781Arg | |
| ENST00000367408.5:c.3091G>A | ENSP00000356378.1:p.Gly1031Arg | |
| ENST00000367409.8:c.10096G>A | ENSP00000356379.4:p.Gly3366Arg | |
| ENST00000612785.1:c.4054G>A | ENSP00000479244.1:p.Gly1352Arg | |
| NM_001206846.1:c.5341G>A | NP_001193775.1:p.Gly1781Arg | |
| NM_018136.4:c.10096G>A | NP_060606.3:p.Gly3366Arg | |
| NM_018136.5:c.10096G>A MANE Select | NP_060606.3:p.Gly3366Arg | |
| NM_001206846.2:c.5341G>A | NP_001193775.1:p.Gly1781Arg |