Revel Score:
ENST00000375453
0.028
ENST00000358829
0.028
ENST00000375448 (MANE Select)
0.028
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17331039G>T , CM000663.2:g.17331039G>T | GRCh38 |
| NC_000001.10:g.17657534G>T , CM000663.1:g.17657534G>T | GRCh37 |
| NC_000001.9:g.17530121G>T | NCBI36 |
| NG_023261.2:g.27850G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375448.4:c.163G>T MANE Select | ENSP00000364597.4:p.Gly55Cys | |
| ENST00000375453.5:c.163G>T | ENSP00000364602.1:p.Gly55Cys | |
| ENST00000624583.1:c.166+592C>A | ENSP00000485570.1:n.166+592C>A | |
| NM_012387.2:c.163G>T | NP_036519.2:p.Gly55Cys | |
| XM_011541150.1:c.163G>T | XP_011539452.1:p.Gly55Cys | |
| XM_011541151.1:c.163G>T | XP_011539453.1:p.Gly55Cys | |
| XM_011541153.1:c.163G>T | XP_011539455.1:p.Gly55Cys | |
| XM_011541154.1:c.163G>T | XP_011539456.1:p.Gly55Cys | |
| XM_011541155.1:c.163G>T | XP_011539457.1:p.Gly55Cys | |
| XM_011541156.1:c.163G>T | XP_011539458.1:p.Gly55Cys | |
| XM_011541154.2:c.163G>T | XP_011539456.1:p.Gly55Cys | |
| NM_012387.3:c.163G>T MANE Select | NP_036519.2:p.Gly55Cys |