ClinVar RCV:
ClinVar Variation:
dbSNP:
Revel Score:
ENST00000401061 (MANE Select)
0.954
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45508830G>A , CM000663.2:g.45508830G>A | GRCh38 |
| NC_000001.10:g.45974502G>A , CM000663.1:g.45974502G>A | GRCh37 |
| NC_000001.9:g.45747089G>A | NCBI36 |
| NG_013378.1:g.13647G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401061.9:c.464G>A MANE Select | ENSP00000383840.4:p.Gly155Glu | |
| ENST00000401061.8:c.464G>A | ENSP00000383840.4:p.Gly155Glu | |
| ENST00000616135.1:c.293G>A | ENSP00000478859.1:p.Gly98Glu | |
| NM_015506.2:c.464G>A | NP_056321.2:p.Gly155Glu | |
| XM_005270724.3:c.269G>A | XP_005270781.1:p.Gly90Glu | |
| XM_011541204.1:c.293G>A | XP_011539506.1:p.Gly98Glu | |
| NM_001330540.1:c.293G>A | NP_001317469.1:p.Gly98Glu | |
| XM_005270724.5:c.269G>A | XP_005270781.1:p.Gly90Glu | |
| NM_015506.3:c.464G>A MANE Select | NP_056321.2:p.Gly155Glu | |
| NM_001330540.2:c.293G>A | NP_001317469.1:p.Gly98Glu |