Revel Score:
ENST00000310128 (MANE Select)
0.750
ENST00000525550
0.750
ENST00000532569
0.750
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00021256 (NFE)
Genomes Max Group AF
0.00004765 (NFE)
Exomes Max Group AF
0.00021965 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.74457268C>T , CM000673.2:g.74457268C>T | GRCh38 |
| NC_000011.9:g.74168313C>T , CM000673.1:g.74168313C>T | GRCh37 |
| NC_000011.8:g.73845961C>T | NCBI36 |
| NG_011833.1:g.15288G>A , LRG_439:g.15288G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310128.9:c.296G>A MANE Select | ENSP00000310557.4:p.Arg99His | |
| ENST00000310128.8:c.296G>A | ENSP00000310557.4:p.Arg99His | |
| ENST00000525550.1:c.296G>A | ENSP00000433633.1:p.Arg99His | |
| ENST00000532569.5:c.296G>A | ENSP00000431739.1:p.Arg99His | |
| NM_005472.4:c.296G>A , LRG_439t1:c.296G>A | NP_005463.1:p.Arg99His | |
| XM_011544713.1:c.428G>A | XP_011543015.1:p.Arg143His | |
| XM_011544713.2:c.428G>A | XP_011543015.1:p.Arg143His | |
| XM_017017047.1:c.296G>A | XP_016872536.1:p.Arg99His | |
| XM_017017048.1:c.296G>A | XP_016872537.1:p.Arg99His | |
| XM_017017049.1:c.296G>A | XP_016872538.1:p.Arg99His | |
| XM_017017051.2:c.296G>A | XP_016872540.1:p.Arg99His | |
| XM_017017052.1:c.296G>A | XP_016872541.1:p.Arg99His | |
| NM_005472.5:c.296G>A MANE Select | NP_005463.1:p.Arg99His |