Revel Score:
ENST00000438045
0.514
ENST00000248633 (MANE Select)
0.514
ENST00000541751
0.514
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92504864C>A , CM000669.2:g.92504864C>A | GRCh38 |
| NC_000007.13:g.92134178C>A , CM000669.1:g.92134178C>A | GRCh37 |
| NC_000007.12:g.91972114C>A | NCBI36 |
| NG_008341.1:g.28668G>T | |
| NG_008341.2:g.28668G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.1939G>T MANE Select | ENSP00000248633.4:p.Ala647Ser | |
| ENST00000248633.8:c.1939G>T | ENSP00000248633.4:p.Ala647Ser | |
| ENST00000428214.5:c.1900+1384G>T | ENSP00000394413.1:n.1900+1384G>T | |
| ENST00000438045.5:c.973G>T | ENSP00000410438.1:p.Ala325Ser | |
| ENST00000484913.5:n.1978G>T | ||
| ENST00000496420.5:n.1615G>T | ||
| NM_000466.2:c.1939G>T | NP_000457.1:p.Ala647Ser | |
| NM_001282677.1:c.1900+1384G>T | NP_001269606.1:n.1900+1384G>T | |
| NM_001282678.1:c.1315G>T | NP_001269607.1:p.Ala439Ser | |
| XM_005250433.3:c.190G>T | XP_005250490.1:p.Ala64Ser | |
| XR_242246.3:n.2035G>T | ||
| XM_017012319.2:c.190G>T | XP_016867808.1:p.Ala64Ser | |
| XR_001744808.2:n.966G>T | ||
| XR_242246.5:n.1986G>T | ||
| NM_000466.3:c.1939G>T MANE Select | NP_000457.1:p.Ala647Ser | |
| NM_001282677.2:c.1900+1384G>T | NP_001269606.1:n.1900+1384G>T | |
| NM_001282678.2:c.1315G>T | NP_001269607.1:p.Ala439Ser |