ClinVar RCV:
ClinVar Variation:
COSMIC:
COSM3763288
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.20523801 (EAS)
Genomes Max Group AF
0.21090687 (EAS)
Exomes Max Group AF
0.20337144 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.27516348G>A , CM000670.2:g.27516348G>A | GRCh38 |
| NC_000008.10:g.27373865G>A , CM000670.1:g.27373865G>A | GRCh37 |
| NC_000008.9:g.27429782G>A | NCBI36 |
| NG_012064.1:g.30221G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000521400.6:c.860G>A MANE Select | ENSP00000430269.1:p.Arg287Gln | |
| ENST00000380476.7:c.701G>A | ENSP00000369843.3:p.Arg234Gln | |
| ENST00000517536.5:c.311G>A | ENSP00000428875.1:p.Arg104Gln | |
| ENST00000518379.5:c.764G>A | ENSP00000427956.1:p.Arg255Gln | |
| ENST00000520623.5:n.944G>A | ||
| ENST00000521400.5:c.860G>A | ENSP00000430269.1:p.Arg287Gln | |
| ENST00000521684.1:c.736G>A | ||
| ENST00000521780.5:c.662G>A | ENSP00000430302.1:p.Arg221Gln | |
| ENST00000523326.1:n.380G>A | ||
| NM_001256482.1:c.701G>A | NP_001243411.1:p.Arg234Gln | |
| NM_001256483.1:c.662G>A | NP_001243412.1:p.Arg221Gln | |
| NM_001256484.1:c.701G>A | NP_001243413.1:p.Arg234Gln | |
| NM_001979.5:c.860G>A | NP_001970.2:p.Arg287Gln | |
| XM_017013199.1:c.737G>A | XP_016868688.1:p.Arg246Gln | |
| XR_001745491.1:n.918G>A | ||
| NM_001256482.2:c.701G>A | NP_001243411.1:p.Arg234Gln | |
| NM_001256483.2:c.662G>A | NP_001243412.1:p.Arg221Gln | |
| NM_001256484.2:c.701G>A | NP_001243413.1:p.Arg234Gln | |
| NM_001979.6:c.860G>A MANE Select | NP_001970.2:p.Arg287Gln |