Revel Score:
ENST00000228841 (MANE Select)
0.629
ENST00000548438
0.629
ENST00000550439
0.629
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110913324C>T , CM000674.2:g.110913324C>T | GRCh38 |
| NC_000012.11:g.111351128C>T , CM000674.1:g.111351128C>T | GRCh37 |
| NC_000012.10:g.109835511C>T | NCBI36 |
| NG_007554.1:g.12254G>A , LRG_393:g.12254G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228841.15:c.275G>A MANE Select | ENSP00000228841.8:p.Gly92Glu | |
| ENST00000663220.1:c.218G>A | ENSP00000499568.1:p.Gly73Glu | |
| ENST00000228841.12:c.275G>A | ENSP00000228841.7:p.Gly92Glu | |
| ENST00000548438.1:c.233G>A | ENSP00000447154.1:p.Gly78Glu | |
| ENST00000549029.1:n.106G>A | ||
| NM_000432.3:c.275G>A , LRG_393t1:c.275G>A | NP_000423.2:p.Gly92Glu | |
| NM_000432.4:c.275G>A MANE Select | NP_000423.2:p.Gly92Glu |