Revel Score:
ENST00000438045
0.091
ENST00000248633 (MANE Select)
0.091
ENST00000428214
0.091
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92501981T>A , CM000669.2:g.92501981T>A | GRCh38 |
| NC_000007.13:g.92131295T>A , CM000669.1:g.92131295T>A | GRCh37 |
| NC_000007.12:g.91969231T>A | NCBI36 |
| NG_008341.1:g.31551A>T | |
| NG_008341.2:g.31551A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.2325A>T MANE Select | ENSP00000248633.4:p.Glu775Asp | |
| ENST00000248633.8:c.2325A>T | ENSP00000248633.4:p.Glu775Asp | |
| ENST00000428214.5:c.2154A>T | ENSP00000394413.1:p.Glu718Asp | |
| ENST00000438045.5:c.1359A>T | ENSP00000410438.1:p.Glu453Asp | |
| ENST00000484913.5:n.2364A>T | ||
| ENST00000496092.1:n.123A>T | ||
| ENST00000496420.5:n.2001A>T | ||
| NM_000466.2:c.2325A>T | NP_000457.1:p.Glu775Asp | |
| NM_001282677.1:c.2154A>T | NP_001269606.1:p.Glu718Asp | |
| NM_001282678.1:c.1701A>T | NP_001269607.1:p.Glu567Asp | |
| XM_005250433.3:c.576A>T | XP_005250490.1:p.Glu192Asp | |
| XR_242246.3:n.2421A>T | ||
| XM_017012319.2:c.576A>T | XP_016867808.1:p.Glu192Asp | |
| XR_001744808.2:n.1352A>T | ||
| XR_242246.5:n.2372A>T | ||
| NM_000466.3:c.2325A>T MANE Select | NP_000457.1:p.Glu775Asp | |
| NM_001282677.2:c.2154A>T | NP_001269606.1:p.Glu718Asp | |
| NM_001282678.2:c.1701A>T | NP_001269607.1:p.Glu567Asp |