Revel Score:
ENST00000399503 (MANE Select)
0.355
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.56882284A>T , CM000667.2:g.56882284A>T | GRCh38 |
| NC_000005.9:g.56178111A>T , CM000667.1:g.56178111A>T | GRCh37 |
| NC_000005.8:g.56213868A>T | NCBI36 |
| NG_031884.1:g.72212A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399503.4:c.3084A>T MANE Select | ENSP00000382423.3:p.Gln1028His | |
| ENST00000399503.3:c.3084A>T | ENSP00000382423.3:p.Gln1028His | |
| NM_005921.1:c.3084A>T | NP_005912.1:p.Gln1028His | |
| XM_005248519.3:c.2706A>T | XP_005248576.2:p.Gln902His | |
| XM_011543406.1:c.2829A>T | XP_011541708.1:p.Gln943His | |
| XM_011543407.1:c.2805A>T | XP_011541709.1:p.Gln935His | |
| XM_011543408.1:c.3084A>T | XP_011541710.1:p.Gln1028His | |
| XM_017009484.1:c.2673A>T | XP_016864973.1:p.Gln891His | |
| XM_017009485.1:c.2595A>T | XP_016864974.1:p.Gln865His | |
| XR_001742068.2:n.3115A>T | ||
| NM_005921.2:c.3084A>T MANE Select | NP_005912.1:p.Gln1028His |