ClinVar Variation:
dbSNP:
Revel Score:
ENST00000228841 (MANE Select)
0.596
ENST00000548438
0.596
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110911090T>G , CM000674.2:g.110911090T>G | GRCh38 |
| NC_000012.11:g.111348894T>G , CM000674.1:g.111348894T>G | GRCh37 |
| NC_000012.10:g.109833277T>G | NCBI36 |
| NG_007554.1:g.14488A>C , LRG_393:g.14488A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228841.15:c.488A>C MANE Select | ENSP00000228841.8:p.Glu163Ala | |
| ENST00000663220.1:c.431A>C | ENSP00000499568.1:p.Glu144Ala | |
| ENST00000228841.12:c.488A>C | ENSP00000228841.7:p.Glu163Ala | |
| ENST00000548438.1:c.446A>C | ENSP00000447154.1:p.Glu149Ala | |
| NM_000432.3:c.488A>C , LRG_393t1:c.488A>C | NP_000423.2:p.Glu163Ala | |
| NM_000432.4:c.488A>C MANE Select | NP_000423.2:p.Glu163Ala |