Revel Score:
ENST00000538474
0.291
ENST00000361134
0.291
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000293 (NFE)
Exomes Max Group AF
0.00000311 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137233404G>T , CM000671.2:g.137233404G>T | GRCh38 |
| NC_000009.11:g.140127856G>T , CM000671.1:g.140127856G>T | GRCh37 |
| NC_000009.10:g.139247677G>T | NCBI36 |
| NG_017008.1:g.7648G>T | |
| NG_017008.2:g.7504G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673835.1:c.756G>T MANE Select | ENSP00000501114.1:p.Gln252His | |
| ENST00000673865.1:c.756G>T | ENSP00000501101.1:p.Gln252His | |
| ENST00000361134.2:c.756G>T | ENSP00000355353.2:p.Gln252His | |
| ENST00000538474.5:c.756G>T | ENSP00000442397.1:p.Gln252His | |
| NM_001177316.1:c.756G>T | NP_001170787.1:p.Gln252His | |
| NM_001177317.1:c.756G>T | NP_001170788.1:p.Gln252His | |
| NM_080877.2:c.756G>T | NP_543153.1:p.Gln252His | |
| XM_011518256.1:c.756G>T | XP_011516558.1:p.Gln252His | |
| XM_011518257.1:c.756G>T | XP_011516559.1:p.Gln252His | |
| XM_011518258.1:c.756G>T | XP_011516560.1:p.Gln252His | |
| XM_011518259.1:c.756G>T | XP_011516561.1:p.Gln252His | |
| XM_011518260.1:c.756G>T | XP_011516562.1:p.Gln252His | |
| XM_011518261.1:c.756G>T | XP_011516563.1:p.Gln252His | |
| XM_011518262.1:c.756G>T | XP_011516564.1:p.Gln252His | |
| XM_011518257.2:c.756G>T | XP_011516559.1:p.Gln252His | |
| XM_011518261.2:c.756G>T | XP_011516563.1:p.Gln252His | |
| XM_017014290.1:c.756G>T | XP_016869779.1:p.Gln252His | |
| XM_017014291.1:c.756G>T | XP_016869780.1:p.Gln252His | |
| XM_017014292.1:c.756G>T | XP_016869781.1:p.Gln252His | |
| NM_001177316.2:c.756G>T MANE Select | NP_001170787.2:p.Gln252His | |
| NM_001177317.2:c.756G>T | NP_001170788.2:p.Gln252His | |
| NM_080877.3:c.756G>T | NP_543153.2:p.Gln252His |