Revel Score:
ENST00000373083
0.031
ENST00000373089 (MANE Select)
0.031
ENST00000373086
0.031
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.41341884C>A , CM000668.2:g.41341884C>A | GRCh38 |
| NC_000006.11:g.41309622C>A , CM000668.1:g.41309622C>A | GRCh37 |
| NC_000006.10:g.41417600C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373089.10:c.485C>A MANE Select | ENSP00000362181.5:p.Ala162Asp | |
| ENST00000373083.8:c.485C>A | ENSP00000362175.4:p.Ala162Asp | |
| ENST00000373086.3:c.485C>A | ENSP00000362178.3:p.Ala162Asp | |
| ENST00000373089.9:c.485C>A | ENSP00000362181.5:p.Ala162Asp | |
| NM_001199509.1:c.485C>A | NP_001186438.1:p.Ala162Asp | |
| NM_001199510.1:c.485C>A | NP_001186439.1:p.Ala162Asp | |
| NM_004828.3:c.485C>A | NP_004819.2:p.Ala162Asp | |
| XM_017011500.1:c.509C>A | XP_016866989.1:p.Ala170Asp | |
| NM_004828.4:c.485C>A MANE Select | NP_004819.2:p.Ala162Asp | |
| NM_001199509.2:c.485C>A | NP_001186438.1:p.Ala162Asp | |
| NM_001199510.2:c.485C>A | NP_001186439.1:p.Ala162Asp |