ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01029179 (AFR)
Genomes Max Group AF
0.01018198 (AFR)
Exomes Max Group AF
0.00986697 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3248947G>C , CM000678.2:g.3248947G>C | GRCh38 |
| NC_000016.9:g.3298947G>C , CM000678.1:g.3298947G>C | GRCh37 |
| NC_000016.8:g.3238948G>C | NCBI36 |
| NG_007871.1:g.12681C>G , LRG_190:g.12681C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219596.6:c.1318C>G MANE Select | ENSP00000219596.1:p.Gln440Glu | |
| ENST00000219596.5:c.1318C>G | ENSP00000219596.1:p.Gln440Glu | |
| ENST00000339854.8:c.778C>G | ENSP00000339639.4:p.Gln260Glu | |
| ENST00000536379.5:c.685C>G | ENSP00000445079.1:p.Gln229Glu | |
| ENST00000536980.5:c.685C>G | ENSP00000444178.1:p.Gln229Glu | |
| ENST00000537682.5:c.1318C>G | ENSP00000438611.1:p.Gln440Glu | |
| ENST00000538326.5:c.1318C>G | ENSP00000437486.1:p.Gln440Glu | |
| ENST00000539145.5:c.278-1701C>G | ENSP00000444471.1:n.278-1701C>G | |
| ENST00000541159.5:c.685C>G | ENSP00000438711.1:p.Gln229Glu | |
| ENST00000542898.5:c.1411C>G | ENSP00000444615.1:p.Gln471Glu | |
| ENST00000570511.5:c.911-1701C>G | ENSP00000458312.1:n.911-1701C>G | |
| ENST00000572244.5:c.278-2400C>G | ENSP00000461186.1:n.278-2400C>G | |
| ENST00000574583.5:c.278-1701C>G | ENSP00000460269.1:n.278-1701C>G | |
| ENST00000576315.5:c.278-1701C>G | ENSP00000460551.1:n.278-1701C>G | |
| ENST00000621655.1:c.685C>G | ENSP00000481436.1:p.Gln229Glu | |
| NM_000243.2:c.1318C>G , LRG_190t1:c.1318C>G | NP_000234.1:p.Gln440Glu | |
| NM_001198536.1:c.685C>G | NP_001185465.1:p.Gln229Glu | |
| XM_017023236.2:c.1315C>G | XP_016878725.1:p.Gln439Glu | |
| XR_001751903.1:n.1507C>G | ||
| NM_000243.3:c.1318C>G MANE Select | NP_000234.1:p.Gln440Glu | |
| NM_001198536.2:c.685C>G | NP_001185465.2:p.Gln229Glu |