ClinGen Classification:
Classification
Benign
ClinVar RCV:
ClinVar Variation:
COSMIC:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.09721368 (AMR)
Genomes Max Group AF
0.06920501 (AMR)
Exomes Max Group AF
0.10588015 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38534726C>G , CM000681.2:g.38534726C>G | GRCh38 |
| NC_000019.9:g.39025366C>G , CM000681.1:g.39025366C>G | GRCh37 |
| NC_000019.8:g.43717206C>G | NCBI36 |
| NG_008866.1:g.106027C>G , LRG_766:g.106027C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000599547.6:c.11205C>G | ENSP00000471601.2:n.11205C>G | |
| ENST00000359596.8:c.11266C>G MANE Select | ENSP00000352608.2:p.Gln3756Glu | |
| ENST00000355481.8:c.11251C>G | ENSP00000347667.3:p.Gln3751Glu | |
| ENST00000359596.7:c.11266C>G | ENSP00000352608.2:p.Gln3756Glu | |
| ENST00000360985.7:c.11248C>G | ENSP00000354254.4:p.Gln3750Glu | |
| ENST00000594335.5:c.4653C>G | ||
| ENST00000599547.5:c.2073C>G | ||
| ENST00000601514.5:c.547C>G | ENSP00000472497.1:p.Gln183Glu | |
| NM_000540.2:c.11266C>G , LRG_766t1:c.11266C>G | NP_000531.2:p.Gln3756Glu | |
| NM_001042723.1:c.11251C>G | NP_001036188.1:p.Gln3751Glu | |
| XM_006723317.1:c.11266C>G | XP_006723380.1:p.Gln3756Glu | |
| XM_006723319.1:c.11251C>G | XP_006723382.1:p.Gln3751Glu | |
| XM_011527204.1:c.11263C>G | XP_011525506.1:p.Gln3755Glu | |
| XM_011527205.1:c.11266C>G | XP_011525507.1:p.Gln3756Glu | |
| XM_006723317.2:c.11266C>G | XP_006723380.1:p.Gln3756Glu | |
| XM_006723319.2:c.11251C>G | XP_006723382.1:p.Gln3751Glu | |
| XM_011527205.2:c.11266C>G | XP_011525507.1:p.Gln3756Glu | |
| NM_000540.3:c.11266C>G MANE Select | NP_000531.2:p.Gln3756Glu | |
| NM_001042723.2:c.11251C>G | NP_001036188.1:p.Gln3751Glu |