Revel Score:
ENST00000438045
0.375
ENST00000248633 (MANE Select)
0.375
ENST00000541751
0.375
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92504863G>A , CM000669.2:g.92504863G>A | GRCh38 |
| NC_000007.13:g.92134177G>A , CM000669.1:g.92134177G>A | GRCh37 |
| NC_000007.12:g.91972113G>A | NCBI36 |
| NG_008341.1:g.28669C>T | |
| NG_008341.2:g.28669C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.1940C>T MANE Select | ENSP00000248633.4:p.Ala647Val | |
| ENST00000248633.8:c.1940C>T | ENSP00000248633.4:p.Ala647Val | |
| ENST00000428214.5:c.1900+1385C>T | ENSP00000394413.1:n.1900+1385C>T | |
| ENST00000438045.5:c.974C>T | ENSP00000410438.1:p.Ala325Val | |
| ENST00000484913.5:n.1979C>T | ||
| ENST00000496420.5:n.1616C>T | ||
| NM_000466.2:c.1940C>T | NP_000457.1:p.Ala647Val | |
| NM_001282677.1:c.1900+1385C>T | NP_001269606.1:n.1900+1385C>T | |
| NM_001282678.1:c.1316C>T | NP_001269607.1:p.Ala439Val | |
| XM_005250433.3:c.191C>T | XP_005250490.1:p.Ala64Val | |
| XR_242246.3:n.2036C>T | ||
| XM_017012319.2:c.191C>T | XP_016867808.1:p.Ala64Val | |
| XR_001744808.2:n.967C>T | ||
| XR_242246.5:n.1987C>T | ||
| NM_000466.3:c.1940C>T MANE Select | NP_000457.1:p.Ala647Val | |
| NM_001282677.2:c.1900+1385C>T | NP_001269606.1:n.1900+1385C>T | |
| NM_001282678.2:c.1316C>T | NP_001269607.1:p.Ala439Val |