Revel Score:
ENST00000426263 (MANE Select)
0.339
ENST00000372501
0.339
ENST00000397019
0.339
ENST00000439722
0.339
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42929637C>A , CM000663.2:g.42929637C>A | GRCh38 |
| NC_000001.10:g.43395308C>A , CM000663.1:g.43395308C>A | GRCh37 |
| NC_000001.9:g.43167895C>A | NCBI36 |
| NG_008232.1:g.34540G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.823G>T MANE Select | ENSP00000416293.2:p.Ala275Ser | |
| ENST00000674765.1:c.823G>T | ENSP00000501811.1:p.Ala275Ser | |
| ENST00000675112.1:n.846G>T | ||
| ENST00000676254.1:n.1272G>T | ||
| ENST00000426263.7:c.823G>T | ENSP00000416293.2:p.Ala275Ser | |
| ENST00000439722.2:c.702G>T | ENSP00000395521.2:n.702G>T | |
| ENST00000475162.3:c.415+989G>T | ||
| ENST00000630287.2:c.*138G>T | ENSP00000486694.1:n.*138G>T | |
| NM_006516.2:c.823G>T | NP_006507.2:p.Ala275Ser | |
| NM_006516.3:c.823G>T | NP_006507.2:p.Ala275Ser | |
| NM_006516.4:c.823G>T MANE Select | NP_006507.2:p.Ala275Ser |