Revel Score:
ENST00000438045
0.483
ENST00000248633 (MANE Select)
0.483
ENST00000428214
0.483
ENST00000545192
0.483
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92522155C>T , CM000669.2:g.92522155C>T | GRCh38 |
| NC_000007.13:g.92151469C>T , CM000669.1:g.92151469C>T | GRCh37 |
| NC_000007.12:g.91989405C>T | NCBI36 |
| NG_008341.1:g.11377G>A | |
| NG_008341.2:g.11377G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.220G>A MANE Select | ENSP00000248633.4:p.Ala74Thr | |
| ENST00000248633.8:c.220G>A | ENSP00000248633.4:p.Ala74Thr | |
| ENST00000428214.5:c.220G>A | ENSP00000394413.1:p.Ala74Thr | |
| ENST00000438045.5:c.220G>A | ENSP00000410438.1:p.Ala74Thr | |
| ENST00000484913.5:n.224G>A | ||
| NM_000466.2:c.220G>A | NP_000457.1:p.Ala74Thr | |
| NM_001282677.1:c.220G>A | NP_001269606.1:p.Ala74Thr | |
| NM_001282678.1:c.-440G>A | NP_001269607.1:n.-440G>A | |
| XR_242246.3:n.316G>A | ||
| XR_242246.5:n.267G>A | ||
| NM_000466.3:c.220G>A MANE Select | NP_000457.1:p.Ala74Thr | |
| NM_001282677.2:c.220G>A | NP_001269606.1:p.Ala74Thr | |
| NM_001282678.2:c.-440G>A | NP_001269607.1:n.-440G>A |