Revel Score:
ENST00000261699
0.117
ENST00000267436 (MANE Select)
0.117
ENST00000421284
0.117
ENST00000557131
0.117
ENST00000555423
0.117
ENST00000555610
0.117
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000966 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00000821 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50312033C>G , CM000676.2:g.50312033C>G | GRCh38 |
| NC_000014.8:g.50778751C>G , CM000676.1:g.50778751C>G | GRCh37 |
| NC_000014.7:g.49848501C>G | NCBI36 |
| NG_008092.1:g.5197G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267436.9:c.118G>C (L2HGDH) MANE Select | ENSP00000267436.4:p.Gly40Arg | |
| ENST00000261699.8:c.118G>C (L2HGDH) | ENSP00000261699.4:p.Gly40Arg | |
| ENST00000267436.8:c.118G>C (L2HGDH) | ENSP00000267436.4:p.Gly40Arg | |
| ENST00000421284.7:c.118G>C (L2HGDH) | ENSP00000405559.3:p.Gly40Arg | |
| ENST00000554191.5:c.118G>C (L2HGDH) | ENSP00000451194.1:p.Gly40Arg | |
| ENST00000555423.5:c.118G>C (L2HGDH) | ENSP00000450494.1:p.Gly40Arg | |
| ENST00000555610.1:c.118G>C (L2HGDH) | ENSP00000452483.1:p.Gly40Arg | |
| ENST00000556393.1:n.115G>C (L2HGDH) | ||
| NM_024884.2:c.118G>C (L2HGDH) | NP_079160.1:p.Gly40Arg | |
| XM_005268075.3:c.118G>C (L2HGDH) | XP_005268132.1:p.Gly40Arg | |
| XM_011537166.1:c.-137G>C (L2HGDH) | XP_011535468.1:n.-137G>C | |
| XR_943538.1:n.357G>C (L2HGDH) | ||
| XM_005268075.5:c.118G>C (L2HGDH) | XP_005268132.1:p.Gly40Arg | |
| XM_011537166.3:c.-137G>C (L2HGDH) | XP_011535468.1:n.-137G>C | |
| XM_017021220.2:c.-6+179C>G (DMAC2L) | XP_016876709.1:n.-6+179C>G | |
| XM_017021656.2:c.-508G>C (L2HGDH) | XP_016877145.1:n.-508G>C | |
| XM_017021657.2:c.-508G>C (L2HGDH) | XP_016877146.1:n.-508G>C | |
| XM_017021658.1:c.118G>C (L2HGDH) | XP_016877147.1:p.Gly40Arg | |
| NM_024884.3:c.118G>C (L2HGDH) MANE Select | NP_079160.1:p.Gly40Arg | |
| NM_001382509.1:c.-6+179C>G (DMAC2L) | NP_001369438.1:n.-6+179C>G |