Revel Score:
ENST00000288235 (MANE Select)
0.953
gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.59231737C>T , CM000677.2:g.59231737C>T | GRCh38 |
| NC_000015.9:g.59523936C>T , CM000677.1:g.59523936C>T | GRCh37 |
| NC_000015.8:g.57311228C>T | NCBI36 |
| NG_031999.1:g.146136G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288235.9:c.475G>A MANE Select | ENSP00000288235.4:p.Ala159Thr | |
| ENST00000288235.8:c.475G>A | ENSP00000288235.4:p.Ala159Thr | |
| ENST00000558571.1:c.*48G>A | ENSP00000453811.1:n.*48G>A | |
| ENST00000558814.1:n.333G>A | ||
| NM_004998.3:c.475G>A | NP_004989.2:p.Ala159Thr | |
| NM_004998.4:c.475G>A MANE Select | NP_004989.2:p.Ala159Thr |