Revel Score:
ENST00000322716 (MANE Select)
0.031
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.36992569C>T , CM000665.2:g.36992569C>T | GRCh38 |
| NC_000003.11:g.37034060C>T , CM000665.1:g.37034060C>T | GRCh37 |
| NC_000003.10:g.37009064C>T | NCBI36 |
| NG_007109.2:g.4220C>T , LRG_216:g.4220C>T | |
| NG_008418.1:g.5736G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322716.8:c.509G>A MANE Select | ENSP00000406027.1:p.Arg170Lys | |
| ENST00000322716.7:c.509G>A | ENSP00000406027.1:p.Arg170Lys | |
| ENST00000623924.1:c.63+309G>A | ||
| NM_014805.3:c.509G>A | NP_055620.1:p.Arg170Lys | |
| NM_014805.4:c.509G>A MANE Select | NP_055620.1:p.Arg170Lys |