Revel Score:
ENST00000325874
0.152
ENST00000394744
0.152
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31517822G>T , CM000679.2:g.31517822G>T | GRCh38 |
| NC_000017.10:g.29844840G>T , CM000679.1:g.29844840G>T | GRCh37 |
| NC_000017.9:g.26868960G>T | NCBI36 |
| NG_051977.1:g.131199G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000621161.5:c.508G>T MANE Select | ENSP00000482620.1:p.Gly170Trp | |
| ENST00000394744.6:c.202G>T | ENSP00000378227.2:p.Gly68Trp | |
| ENST00000578694.1:c.*209G>T | ENSP00000463616.1:n.*209G>T | |
| ENST00000582009.5:c.376G>T | ENSP00000463206.1:p.Gly126Trp | |
| ENST00000583755.1:c.-22-4093G>T | ENSP00000465929.1:n.-22-4093G>T | |
| ENST00000621161.4:c.508G>T | ENSP00000482620.1:p.Gly170Trp | |
| NM_001303542.2:c.202G>T | NP_001290471.2:p.Gly68Trp | |
| NM_032932.5:c.508G>T | NP_116321.2:p.Gly170Trp | |
| NM_001346747.1:c.202G>T | NP_001333676.1:p.Gly68Trp | |
| NM_001346748.1:c.85G>T | NP_001333677.1:p.Gly29Trp | |
| NM_001346749.1:c.-22-4093G>T | NP_001333678.1:n.-22-4093G>T | |
| NM_032932.6:c.508G>T MANE Select | NP_116321.2:p.Gly170Trp | |
| NM_001303542.3:c.202G>T | NP_001290471.2:p.Gly68Trp | |
| NM_001346747.2:c.202G>T | NP_001333676.1:p.Gly68Trp | |
| NM_001346748.2:c.85G>T | NP_001333677.1:p.Gly29Trp | |
| NM_001346749.2:c.-22-4093G>T | NP_001333678.1:n.-22-4093G>T |