ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01221093 (AFR)
Genomes Max Group AF
0.01171414 (AFR)
Exomes Max Group AF
0.01221431 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99900038C>T , CM000672.2:g.99900038C>T | GRCh38 |
| NC_000010.10:g.101659795C>T , CM000672.1:g.101659795C>T | GRCh37 |
| NC_000010.9:g.101649785C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324109.9:c.2583G>A MANE Select | ENSP00000315659.4:p.Glu861= | |
| ENST00000543621.6:c.447G>A | ENSP00000443657.2:p.Glu149= | |
| ENST00000636706.1:c.1479G>A | ENSP00000489875.1:p.Glu493= | |
| ENST00000324109.8:c.2583G>A | ENSP00000315659.4:p.Glu861= | |
| ENST00000422692.1:c.447G>A | ENSP00000409476.1:p.Glu149= | |
| ENST00000543621.5:c.321G>A | ENSP00000443657.1:p.Glu107= | |
| NM_015221.2:c.2583G>A | NP_056036.1:p.Glu861= | |
| XM_006717735.2:c.2583G>A | XP_006717798.1:p.Glu861= | |
| XM_006717736.2:c.2583G>A | XP_006717799.1:p.Glu861= | |
| XM_011539559.1:c.2583G>A | XP_011537861.1:p.Glu861= | |
| XM_011539560.1:c.1479G>A | XP_011537862.1:p.Glu493= | |
| NM_001318326.1:c.1479G>A | NP_001305255.1:p.Glu493= | |
| NM_001318327.1:c.447G>A | NP_001305256.1:p.Glu149= | |
| NM_015221.3:c.2583G>A | NP_056036.1:p.Glu861= | |
| XM_006717735.3:c.2583G>A | XP_006717798.1:p.Glu861= | |
| XM_011539559.2:c.2583G>A | XP_011537861.1:p.Glu861= | |
| NM_015221.4:c.2583G>A MANE Select | NP_056036.1:p.Glu861= | |
| NM_001318326.2:c.1479G>A | NP_001305255.1:p.Glu493= |