gnomAD v4:
Joint Max Group AF
0.000005 (NFE)
Exomes Max Group AF
0.00000531 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32380018A>G , CM000675.2:g.32380018A>G | GRCh38 |
| NC_000013.10:g.32954155A>G , CM000675.1:g.32954155A>G | GRCh37 |
| NC_000013.9:g.31852155A>G | NCBI36 |
| NG_012772.3:g.69539A>G , LRG_293:g.69539A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.9129A>G | ENSP00000434898.2:p.Glu3043= | |
| ENST00000528762.2:c.*496A>G | ENSP00000433168.2:n.*496A>G | |
| ENST00000530893.7:c.8760A>G | ENSP00000499438.2:p.Glu2920= | |
| ENST00000665585.2:c.*691A>G | ENSP00000499570.2:n.*691A>G | |
| ENST00000666593.2:c.9129A>G | ENSP00000499256.2:p.Glu3043= | |
| ENST00000700202.2:c.9078A>G | ENSP00000514856.2:p.Glu3026= | |
| ENST00000700202.1:c.1545A>G | ENSP00000514856.1:p.Glu515= | |
| ENST00000700203.1:n.1256A>G | ||
| ENST00000380152.8:c.9129A>G MANE Select | ENSP00000369497.3:p.Glu3043= | |
| ENST00000544455.6:c.9129A>G | ENSP00000439902.1:p.Glu3043= | |
| ENST00000614259.2:c.9137A>G | ENSP00000506251.1:n.9137A>G | |
| ENST00000665585.1:c.2007A>G | ||
| ENST00000666593.1:c.12A>G | ENSP00000499256.1:p.Glu4= | |
| ENST00000680887.1:c.9129A>G | ENSP00000505508.1:p.Glu3043= | |
| ENST00000380152.7:c.9129A>G | ENSP00000369497.3:p.Glu3043= | |
| ENST00000470094.1:c.86A>G | ||
| ENST00000544455.5:c.9129A>G | ENSP00000439902.1:p.Glu3043= | |
| NM_000059.3:c.9129A>G , LRG_293t1:c.9129A>G | NP_000050.2:p.Glu3043= | |
| XM_011535203.1:c.9129A>G | XP_011533505.1:p.Glu3043= | |
| XM_011535204.1:c.9033A>G | XP_011533506.1:p.Glu3011= | |
| NM_000059.4:c.9129A>G MANE Select | NP_000050.3:p.Glu3043= |