Linked Data
ClinVar Variation Id:
435697
dbSNP Id:
rs201806251
ExAC:
14:50778732 G / A
gnomAD v2:
14-50778732-G-A
gnomAD v3:
14-50312014-G-A
gnomAD v4:
14-50312014-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50312014G>A , CM000676.2:g.50312014G>A | GRCh38 |
| NC_000014.8:g.50778732G>A , CM000676.1:g.50778732G>A | GRCh37 |
| NC_000014.7:g.49848482G>A | NCBI36 |
| NG_008092.1:g.5216C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267436.9:c.137C>T (L2HGDH) MANE Select | ENSP00000267436.4:p.Thr46Ile | |
| ENST00000261699.8:c.137C>T (L2HGDH) | ENSP00000261699.4:p.Thr46Ile | |
| ENST00000267436.8:c.137C>T (L2HGDH) | ENSP00000267436.4:p.Thr46Ile | |
| ENST00000421284.7:c.137C>T (L2HGDH) | ENSP00000405559.3:p.Thr46Ile | |
| ENST00000554191.5:c.137C>T (L2HGDH) | ENSP00000451194.1:p.Thr46Ile | |
| ENST00000555423.5:c.137C>T (L2HGDH) | ENSP00000450494.1:p.Thr46Ile | |
| ENST00000555610.1:c.137C>T (L2HGDH) | ENSP00000452483.1:p.Thr46Ile | |
| ENST00000556393.1:n.134C>T (L2HGDH) | ||
| NM_024884.2:c.137C>T (L2HGDH) | NP_079160.1:p.Thr46Ile | |
| XM_005268075.3:c.137C>T (L2HGDH) | XP_005268132.1:p.Thr46Ile | |
| XM_011537166.1:c.-118C>T (L2HGDH) | XP_011535468.1:n.-118C>T | |
| XR_943538.1:n.376C>T (L2HGDH) | ||
| XM_005268075.5:c.137C>T (L2HGDH) | XP_005268132.1:p.Thr46Ile | |
| XM_011537166.3:c.-118C>T (L2HGDH) | XP_011535468.1:n.-118C>T | |
| XM_017021220.2:c.-6+160G>A (DMAC2L) | XP_016876709.1:n.-6+160G>A | |
| XM_017021656.2:c.-489C>T (L2HGDH) | XP_016877145.1:n.-489C>T | |
| XM_017021657.2:c.-489C>T (L2HGDH) | XP_016877146.1:n.-489C>T | |
| XM_017021658.1:c.137C>T (L2HGDH) | XP_016877147.1:p.Thr46Ile | |
| NM_024884.3:c.137C>T (L2HGDH) MANE Select | NP_079160.1:p.Thr46Ile | |
| NM_001382509.1:c.-6+160G>A (DMAC2L) | NP_001369438.1:n.-6+160G>A |