Revel Score:
ENST00000320580 (MANE Select)
0.655
ENST00000533756
0.655
ENST00000527380
0.655
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66211219G>A , CM000673.2:g.66211219G>A | GRCh38 |
| NC_000011.9:g.65978690G>A , CM000673.1:g.65978690G>A | GRCh37 |
| NC_000011.8:g.65735266G>A | NCBI36 |
| NG_033900.1:g.145867G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320580.9:c.620G>A MANE Select | ENSP00000316454.4:p.Gly207Asp | |
| ENST00000320580.8:c.620G>A | ENSP00000316454.4:p.Gly207Asp | |
| ENST00000527224.1:n.744G>A | ||
| ENST00000527380.1:c.326G>A | ENSP00000432639.1:p.Gly109Asp | |
| ENST00000533756.5:c.311G>A | ENSP00000437150.1:p.Gly104Asp | |
| NM_018026.3:c.620G>A | NP_060496.2:p.Gly207Asp | |
| XM_011545162.1:c.299G>A | XP_011543464.1:p.Gly100Asp | |
| XM_011545163.1:c.290G>A | XP_011543465.1:p.Gly97Asp | |
| XM_011545164.1:c.281G>A | XP_011543466.1:p.Gly94Asp | |
| XM_011545164.2:c.281G>A | XP_011543466.1:p.Gly94Asp | |
| XR_001747924.1:n.831G>A | ||
| NM_018026.4:c.620G>A MANE Select | NP_060496.2:p.Gly207Asp |