Revel Score:
ENST00000388958
0.768
ENST00000286149
0.768
ENST00000388956
0.768
ENST00000388957
0.768
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001425 (SAS)
Exomes Max Group AF
0.00000924 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.21715016G>A , CM000678.2:g.21715016G>A | GRCh38 |
| NC_000016.9:g.21726337G>A , CM000678.1:g.21726337G>A | GRCh37 |
| NC_000016.8:g.21633838G>A | NCBI36 |
| NG_012973.1:g.41503G>A | |
| NG_012973.2:g.55884G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388958.8:c.1352G>A | ENSP00000373610.3:p.Gly451Asp | |
| ENST00000646100.2:c.1352G>A MANE Select | ENSP00000496564.2:p.Gly451Asp | |
| ENST00000647277.1:c.*166G>A | ENSP00000495594.1:n.*166G>A | |
| ENST00000286149.8:c.1394G>A | ENSP00000286149.4:p.Gly465Asp | |
| ENST00000388956.8:c.1115G>A | ENSP00000373608.4:p.Gly372Asp | |
| ENST00000388957.3:c.380G>A | ENSP00000373609.3:p.Gly127Asp | |
| ENST00000388958.7:c.1352G>A | ENSP00000373610.3:p.Gly451Asp | |
| ENST00000563871.5:n.572G>A | ||
| NM_001161683.1:c.1115G>A | NP_001155155.1:p.Gly372Asp | |
| NM_144672.3:c.1352G>A | NP_653273.3:p.Gly451Asp | |
| NM_170664.2:c.380G>A | NP_733764.1:p.Gly127Asp | |
| XM_011545747.1:c.1352G>A | XP_011544049.1:p.Gly451Asp | |
| XM_011545748.1:c.221G>A | XP_011544050.1:p.Gly74Asp | |
| NM_144672.4:c.1352G>A MANE Select | NP_653273.3:p.Gly451Asp | |
| XM_011545748.2:c.221G>A | XP_011544050.2:p.Gly74Asp | |
| XR_002957775.1:n.447G>A | ||
| NM_001161683.2:c.1115G>A | NP_001155155.1:p.Gly372Asp | |
| NM_170664.3:c.380G>A | NP_733764.1:p.Gly127Asp |