Revel Score:
ENST00000230882 (MANE Select)
0.610
ENST00000357703
0.610
ENST00000356276
0.610
ENST00000537449
0.610
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005962 (NFE)
Genomes Max Group AF
0.00002847 (NFE)
Exomes Max Group AF
0.00005889 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.42711314G>C , CM000667.2:g.42711314G>C | GRCh38 |
| NC_000005.9:g.42711416G>C , CM000667.1:g.42711416G>C | GRCh37 |
| NC_000005.8:g.42747173G>C | NCBI36 |
| NG_011688.1:g.292391G>C | |
| NG_011688.2:g.292391G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230882.9:c.726G>C MANE Select | ENSP00000230882.4:p.Glu242Asp | |
| ENST00000230882.8:c.726G>C | ENSP00000230882.4:p.Glu242Asp | |
| ENST00000357703.6:c.660G>C | ENSP00000350335.3:p.Glu220Asp | |
| ENST00000511135.5:c.*338G>C | ENSP00000422333.1:n.*338G>C | |
| ENST00000537449.5:c.726G>C | ENSP00000442206.2:p.Glu242Asp | |
| ENST00000612382.4:c.726G>C | ENSP00000478332.1:p.Glu242Asp | |
| ENST00000612626.4:c.726G>C | ENSP00000479846.1:p.Glu242Asp | |
| ENST00000615111.4:c.726G>C | ENSP00000478291.1:p.Glu242Asp | |
| ENST00000618088.4:c.726G>C | ENSP00000482373.1:p.Glu242Asp | |
| ENST00000620156.4:c.747G>C | ENSP00000483403.1:p.Glu249Asp | |
| ENST00000622294.2:c.726G>C | ENSP00000483926.1:p.Glu242Asp | |
| NM_000163.4:c.726G>C | NP_000154.1:p.Glu242Asp | |
| NM_001242399.2:c.747G>C | NP_001229328.1:p.Glu249Asp | |
| NM_001242400.2:c.726G>C | NP_001229329.1:p.Glu242Asp | |
| NM_001242401.3:c.726G>C | NP_001229330.1:p.Glu242Asp | |
| NM_001242402.2:c.726G>C | NP_001229331.1:p.Glu242Asp | |
| NM_001242403.2:c.726G>C | NP_001229332.1:p.Glu242Asp | |
| NM_001242404.2:c.726G>C | NP_001229333.1:p.Glu242Asp | |
| NM_001242405.2:c.726G>C | NP_001229334.1:p.Glu242Asp | |
| NM_001242406.2:c.726G>C | NP_001229335.1:p.Glu242Asp | |
| NM_001242460.1:c.660G>C | NP_001229389.1:p.Glu220Asp | |
| NM_001242462.1:c.726G>C | NP_001229391.1:p.Glu242Asp | |
| XM_011514031.1:c.681G>C | XP_011512333.1:p.Glu227Asp | |
| NM_000163.5:c.726G>C MANE Select | NP_000154.1:p.Glu242Asp | |
| NM_001242401.4:c.726G>C | NP_001229330.1:p.Glu242Asp | |
| NM_001242403.3:c.726G>C | NP_001229332.1:p.Glu242Asp |