Revel Score:
ENST00000545100
0.027
ENST00000356392 (MANE Select)
0.027
ENST00000543934
0.027
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11426971C>A , CM000681.2:g.11426971C>A | GRCh38 |
| NC_000019.9:g.11537791C>A , CM000681.1:g.11537791C>A | GRCh37 |
| NC_000019.8:g.11398791C>A | NCBI36 |
| NG_041777.1:g.13812G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356392.9:c.514G>T MANE Select | ENSP00000348757.3:p.Val172Leu | |
| ENST00000356392.8:c.514G>T | ENSP00000348757.3:p.Val172Leu | |
| ENST00000586836.5:c.-60G>T | ENSP00000467429.1:n.-60G>T | |
| ENST00000591179.5:c.436G>T | ENSP00000466800.1:p.Val146Leu | |
| ENST00000591345.5:c.*433G>T | ENSP00000467313.1:n.*433G>T | |
| NM_001302453.1:c.352G>T | NP_001289382.1:p.Val118Leu | |
| NM_001302454.1:c.436G>T | NP_001289383.1:p.Val146Leu | |
| NM_145045.4:c.514G>T | NP_659482.3:p.Val172Leu | |
| XM_017026241.1:c.514G>T | XP_016881730.1:p.Val172Leu | |
| NM_145045.5:c.514G>T MANE Select | NP_659482.3:p.Val172Leu | |
| NM_001302454.2:c.436G>T | NP_001289383.1:p.Val146Leu |