Revel Score:
ENST00000271588 (MANE Select)
0.835
ENST00000367492
0.835
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186095486G>T , CM000663.2:g.186095486G>T | GRCh38 |
| NC_000001.10:g.186064618G>T , CM000663.1:g.186064618G>T | GRCh37 |
| NC_000001.9:g.184331241G>T | NCBI36 |
| NG_011841.1:g.365936G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.10538G>T MANE Select | ENSP00000271588.4:p.Gly3513Val | |
| ENST00000271588.8:c.10538G>T | ENSP00000271588.4:p.Gly3513Val | |
| NM_031935.2:c.10538G>T | NP_114141.2:p.Gly3513Val | |
| XM_011510037.1:c.10253G>T | XP_011508339.1:p.Gly3418Val | |
| XM_011510038.1:c.10538G>T | XP_011508340.1:p.Gly3513Val | |
| XM_011510039.1:c.10538G>T | XP_011508341.1:p.Gly3513Val | |
| XM_011510038.3:c.10538G>T | XP_011508340.1:p.Gly3513Val | |
| XM_017002437.1:c.8561G>T | XP_016857926.1:p.Gly2854Val | |
| NM_031935.3:c.10538G>T MANE Select | NP_114141.2:p.Gly3513Val |