Revel Score:
ENST00000515658
0.816
ENST00000328300 (MANE Select)
0.944
ENST00000361603
0.944
ENST00000508186
0.944
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108687641G>T , CM000685.2:g.108687641G>T | GRCh38 |
| NC_000023.10:g.107930871G>T , CM000685.1:g.107930871G>T | GRCh37 |
| NC_000023.9:g.107817527G>T | NCBI36 |
| NG_011977.1:g.252718G>T | |
| NG_011977.2:g.252718G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328300.11:c.4475G>T MANE Select | ENSP00000331902.7:p.Gly1492Val | |
| ENST00000361603.7:c.4457G>T | ENSP00000354505.2:p.Gly1486Val | |
| ENST00000510690.2:n.969G>T | ||
| ENST00000328300.10:c.4475G>T | ENSP00000331902.6:p.Gly1492Val | |
| ENST00000361603.6:c.4457G>T | ENSP00000354505.2:p.Gly1486Val | |
| ENST00000515658.1:c.271G>T | ||
| NM_000495.4:c.4457G>T | NP_000486.1:p.Gly1486Val | |
| NM_033380.2:c.4475G>T | NP_203699.1:p.Gly1492Val | |
| XM_005262070.2:c.4466G>T | XP_005262127.1:p.Gly1489Val | |
| XM_006724616.2:c.4475G>T | XP_006724679.1:p.Gly1492Val | |
| XM_011530849.1:c.4151G>T | XP_011529151.1:p.Gly1384Val | |
| XM_011530851.1:c.2048G>T | XP_011529153.1:p.Gly683Val | |
| XM_011530849.2:c.4490G>T | XP_011529151.2:p.Gly1497Val | |
| XM_017029259.2:c.4481G>T | XP_016884748.1:p.Gly1494Val | |
| XM_017029260.1:c.4472G>T | XP_016884749.1:p.Gly1491Val | |
| XM_017029263.2:c.2810G>T | XP_016884752.1:p.Gly937Val | |
| NM_000495.5:c.4457G>T | NP_000486.1:p.Gly1486Val | |
| NM_033380.3:c.4475G>T MANE Select | NP_203699.1:p.Gly1492Val |