Revel Score:
ENST00000426263 (MANE Select)
0.902
ENST00000372501
0.902
ENST00000397019
0.902
ENST00000439722
0.902
ENST00000372500
0.902
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42930706C>T , CM000663.2:g.42930706C>T | GRCh38 |
| NC_000001.10:g.43396377C>T , CM000663.1:g.43396377C>T | GRCh37 |
| NC_000001.9:g.43168964C>T | NCBI36 |
| NG_008232.1:g.33471G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.436G>A MANE Select | ENSP00000416293.2:p.Glu146Lys | |
| ENST00000674765.1:c.436G>A | ENSP00000501811.1:p.Glu146Lys | |
| ENST00000675112.1:n.459G>A | ||
| ENST00000676254.1:n.885G>A | ||
| ENST00000372500.4:c.340G>A | ENSP00000361578.4:p.Glu114Lys | |
| ENST00000426263.7:c.436G>A | ENSP00000416293.2:p.Glu146Lys | |
| ENST00000439722.2:c.315G>A | ENSP00000395521.2:n.315G>A | |
| ENST00000475162.3:c.335G>A | ||
| ENST00000625233.2:n.644G>A | ||
| ENST00000630287.2:c.436G>A | ENSP00000486694.1:p.Glu146Lys | |
| NM_006516.2:c.436G>A | NP_006507.2:p.Glu146Lys | |
| NM_006516.3:c.436G>A | NP_006507.2:p.Glu146Lys | |
| NM_006516.4:c.436G>A MANE Select | NP_006507.2:p.Glu146Lys |