Revel Score:
ENST00000396076
0.561
ENST00000350669 (MANE Select)
0.561
ENST00000396075
0.561
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000689 (NFE)
Exomes Max Group AF
0.00000653 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21642032C>T , CM000674.2:g.21642032C>T | GRCh38 |
| NC_000012.11:g.21794966C>T , CM000674.1:g.21794966C>T | GRCh37 |
| NC_000012.10:g.21686233C>T | NCBI36 |
| NG_017038.1:g.20824G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647960.1:c.515G>A | ENSP00000497202.1:p.Arg172His | |
| ENST00000673047.2:c.515G>A | ENSP00000500484.2:p.Arg172His | |
| ENST00000350669.5:c.515G>A MANE Select | ENSP00000229319.1:p.Arg172His | |
| ENST00000396075.5:c.515G>A | ENSP00000379385.1:p.Arg172His | |
| ENST00000396076.5:c.515G>A | ENSP00000379386.1:p.Arg172His | |
| NM_001174097.1:c.515G>A | NP_001167568.1:p.Arg172His | |
| NM_001174097.2:c.515G>A | NP_001167568.1:p.Arg172His | |
| NM_001315537.1:c.515G>A | NP_001302466.1:p.Arg172His | |
| NM_002300.6:c.515G>A | NP_002291.1:p.Arg172His | |
| NM_002300.7:c.515G>A | NP_002291.1:p.Arg172His | |
| XM_006719074.2:c.515G>A | XP_006719137.1:p.Arg172His | |
| NM_001174097.3:c.515G>A | NP_001167568.1:p.Arg172His | |
| NM_001315537.2:c.515G>A | NP_001302466.1:p.Arg172His | |
| NM_002300.8:c.515G>A MANE Select | NP_002291.1:p.Arg172His |