Revel Score:
ENST00000438045
0.833
ENST00000248633 (MANE Select)
0.833
ENST00000428214
0.833
ENST00000545192
0.833
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92522151T>C , CM000669.2:g.92522151T>C | GRCh38 |
| NC_000007.13:g.92151465T>C , CM000669.1:g.92151465T>C | GRCh37 |
| NC_000007.12:g.91989401T>C | NCBI36 |
| NG_008341.1:g.11381A>G | |
| NG_008341.2:g.11381A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.224A>G MANE Select | ENSP00000248633.4:p.Glu75Gly | |
| ENST00000248633.8:c.224A>G | ENSP00000248633.4:p.Glu75Gly | |
| ENST00000428214.5:c.224A>G | ENSP00000394413.1:p.Glu75Gly | |
| ENST00000438045.5:c.224A>G | ENSP00000410438.1:p.Glu75Gly | |
| ENST00000484913.5:n.228A>G | ||
| NM_000466.2:c.224A>G | NP_000457.1:p.Glu75Gly | |
| NM_001282677.1:c.224A>G | NP_001269606.1:p.Glu75Gly | |
| NM_001282678.1:c.-436A>G | NP_001269607.1:n.-436A>G | |
| XR_242246.3:n.320A>G | ||
| XR_242246.5:n.271A>G | ||
| NM_000466.3:c.224A>G MANE Select | NP_000457.1:p.Glu75Gly | |
| NM_001282677.2:c.224A>G | NP_001269606.1:p.Glu75Gly | |
| NM_001282678.2:c.-436A>G | NP_001269607.1:n.-436A>G |