Revel Score:
ENST00000378623 (MANE Select)
0.937
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46875551C>T , CM000673.2:g.46875551C>T | GRCh38 |
| NC_000011.9:g.46897102C>T , CM000673.1:g.46897102C>T | GRCh37 |
| NC_000011.8:g.46853678C>T | NCBI36 |
| NG_021394.1:g.48072G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378623.6:c.3830G>A MANE Select | ENSP00000367888.1:p.Arg1277His | |
| ENST00000378623.5:c.3830G>A | ENSP00000367888.1:p.Arg1277His | |
| NM_002334.3:c.3830G>A | NP_002325.2:p.Arg1277His | |
| XM_011520102.1:c.4043G>A | XP_011518404.1:p.Arg1348His | |
| XM_011520103.1:c.3026G>A | XP_011518405.1:p.Arg1009His | |
| XM_011520104.1:c.1595G>A | XP_011518406.1:p.Arg532His | |
| XM_011520103.2:c.3026G>A | XP_011518405.1:p.Arg1009His | |
| XM_011520104.2:c.1595G>A | XP_011518406.1:p.Arg532His | |
| XM_017017734.1:c.3830G>A | XP_016873223.1:p.Arg1277His | |
| NM_002334.4:c.3830G>A MANE Select | NP_002325.2:p.Arg1277His |