Revel Score:
ENST00000345365 (MANE Select)
0.954
ENST00000394589
0.954
ENST00000335858
0.954
ENST00000360276
0.954
ENST00000418935
0.954
ENST00000415064
0.954
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35107376C>A , CM000679.2:g.35107376C>A | GRCh38 |
| NC_000017.10:g.33434395C>A , CM000679.1:g.33434395C>A | GRCh37 |
| NC_000017.9:g.30458508C>A | NCBI36 |
| NG_031858.1:g.17494G>T , LRG_516:g.17494G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586186.3:c.335G>T | ENSP00000468273.3:p.Gly112Val | |
| ENST00000587405.6:c.-23G>T | ENSP00000466478.2:n.-23G>T | |
| ENST00000590016.6:c.395G>T | ENSP00000466399.1:p.Gly132Val | |
| ENST00000590631.2:n.437-895G>T | ||
| ENST00000592577.6:c.-23G>T | ENSP00000466839.2:n.-23G>T | |
| ENST00000345365.11:c.335G>T MANE Select | ENSP00000338790.6:p.Gly112Val | |
| ENST00000335858.11:c.145-895G>T | ENSP00000338408.6:n.145-895G>T | |
| ENST00000345365.10:c.335G>T | ENSP00000338790.6:p.Gly112Val | |
| ENST00000394589.8:c.335G>T | ENSP00000378090.4:p.Gly112Val | |
| ENST00000415064.6:n.485G>T | ||
| ENST00000460118.6:c.-136G>T | ENSP00000464356.2:n.-136G>T | |
| ENST00000585343.5:c.417G>T | ||
| ENST00000585947.5:n.231G>T | ||
| ENST00000585982.5:n.490G>T | ||
| ENST00000586044.5:c.*66G>T | ENSP00000465584.1:n.*66G>T | |
| ENST00000586186.2:c.238G>T | ||
| ENST00000586210.5:c.264-254G>T | ENSP00000465612.1:n.264-254G>T | |
| ENST00000587405.5:c.-23G>T | ENSP00000466478.1:n.-23G>T | |
| ENST00000587977.5:c.*86-254G>T | ENSP00000466587.1:n.*86-254G>T | |
| ENST00000587982.5:n.263G>T | ||
| ENST00000588372.5:c.-23G>T | ENSP00000468764.1:n.-23G>T | |
| ENST00000588594.5:c.*66G>T | ENSP00000465366.1:n.*66G>T | |
| ENST00000589506.1:n.427G>T | ||
| ENST00000590016.5:c.395G>T | ENSP00000466399.1:p.Gly132Val | |
| ENST00000590631.1:c.-51-895G>T | ENSP00000465033.1:n.-51-895G>T | |
| ENST00000591723.5:c.-62G>T | ENSP00000467986.1:n.-62G>T | |
| ENST00000592181.1:c.-23G>T | ENSP00000464799.1:n.-23G>T | |
| ENST00000592430.5:n.304G>T | ||
| ENST00000592577.5:c.341G>T | ENSP00000466839.1:p.Gly114Val | |
| ENST00000592850.5:c.346-895G>T | ||
| ENST00000592928.2:n.167-895G>T | ||
| ENST00000593039.5:c.4-895G>T | ENSP00000466834.1:n.4-895G>T | |
| NM_001142571.1:c.395G>T | NP_001136043.1:p.Gly132Val | |
| NM_002878.3:c.335G>T , LRG_516t1:c.335G>T | NP_002869.3:p.Gly112Val | |
| NM_133629.2:c.145-895G>T | NP_598332.1:n.145-895G>T | |
| NR_037711.1:n.472G>T | ||
| NR_037712.1:n.472G>T | ||
| NR_037714.1:n.233-895G>T | ||
| NM_001142571.2:c.395G>T | NP_001136043.1:p.Gly132Val | |
| NM_133629.3:c.145-895G>T | NP_598332.1:n.145-895G>T | |
| NR_037711.2:n.361G>T | ||
| NR_037712.2:n.361G>T | ||
| NM_002878.4:c.335G>T MANE Select | NP_002869.3:p.Gly112Val |