Revel Score:
ENST00000438045
0.790
ENST00000248633 (MANE Select)
0.790
ENST00000541751
0.790
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92504854T>C , CM000669.2:g.92504854T>C | GRCh38 |
| NC_000007.13:g.92134168T>C , CM000669.1:g.92134168T>C | GRCh37 |
| NC_000007.12:g.91972104T>C | NCBI36 |
| NG_008341.1:g.28678A>G | |
| NG_008341.2:g.28678A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.1949A>G MANE Select | ENSP00000248633.4:p.Glu650Gly | |
| ENST00000248633.8:c.1949A>G | ENSP00000248633.4:p.Glu650Gly | |
| ENST00000428214.5:c.1900+1394A>G | ENSP00000394413.1:n.1900+1394A>G | |
| ENST00000438045.5:c.983A>G | ENSP00000410438.1:p.Glu328Gly | |
| ENST00000484913.5:n.1988A>G | ||
| ENST00000496420.5:n.1625A>G | ||
| NM_000466.2:c.1949A>G | NP_000457.1:p.Glu650Gly | |
| NM_001282677.1:c.1900+1394A>G | NP_001269606.1:n.1900+1394A>G | |
| NM_001282678.1:c.1325A>G | NP_001269607.1:p.Glu442Gly | |
| XM_005250433.3:c.200A>G | XP_005250490.1:p.Glu67Gly | |
| XR_242246.3:n.2045A>G | ||
| XM_017012319.2:c.200A>G | XP_016867808.1:p.Glu67Gly | |
| XR_001744808.2:n.976A>G | ||
| XR_242246.5:n.1996A>G | ||
| NM_000466.3:c.1949A>G MANE Select | NP_000457.1:p.Glu650Gly | |
| NM_001282677.2:c.1900+1394A>G | NP_001269606.1:n.1900+1394A>G | |
| NM_001282678.2:c.1325A>G | NP_001269607.1:p.Glu442Gly |