Revel Score:
ENST00000290219 (MANE Select)
0.170
ENST00000381995
0.170
ENST00000405436
0.170
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.33432184G>A , CM000683.2:g.33432184G>A | GRCh38 |
| NC_000021.8:g.34804491G>A , CM000683.1:g.34804491G>A | GRCh37 |
| NC_000021.7:g.33726361G>A | NCBI36 |
| NG_007570.2:g.52193G>A , LRG_67:g.52193G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696724.1:c.560G>A | ENSP00000512835.1:p.Gly187Asp | |
| ENST00000290219.11:c.569G>A MANE Select | ENSP00000290219.5:p.Gly190Asp | |
| ENST00000290219.10:c.569G>A | ENSP00000290219.5:p.Gly190Asp | |
| ENST00000381995.5:c.626G>A | ENSP00000371425.1:p.Gly209Asp | |
| ENST00000405436.5:c.332G>A | ENSP00000385044.1:p.Gly111Asp | |
| ENST00000439213.5:c.*544G>A | ENSP00000407541.1:n.*544G>A | |
| ENST00000545369.2:c.*322G>A | ENSP00000442735.2:n.*322G>A | |
| NM_005534.3:c.569G>A , LRG_67t1:c.569G>A | NP_005525.2:p.Gly190Asp | |
| XM_005260969.2:c.626G>A | XP_005261026.1:p.Gly209Asp | |
| XM_011529553.1:c.644G>A | XP_011527855.1:p.Gly215Asp | |
| XM_011529554.1:c.575G>A | XP_011527856.1:p.Gly192Asp | |
| NM_001329128.1:c.626G>A | NP_001316057.1:p.Gly209Asp | |
| XM_011529554.2:c.575G>A | XP_011527856.1:p.Gly192Asp | |
| NM_001329128.2:c.626G>A | NP_001316057.1:p.Gly209Asp | |
| NM_005534.4:c.569G>A MANE Select | NP_005525.2:p.Gly190Asp |