Revel Score:
ENST00000372468
0.232
ENST00000372470 (MANE Select)
0.232
ENST00000413998
0.232
gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.43339435C>G , CM000663.2:g.43339435C>G | GRCh38 |
| NC_000001.10:g.43805106C>G , CM000663.1:g.43805106C>G | GRCh37 |
| NC_000001.9:g.43577693C>G | NCBI36 |
| NG_007525.1:g.6632C>G , LRG_510:g.6632C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372470.9:c.556C>G MANE Select | ENSP00000361548.3:p.Gln186Glu | |
| ENST00000413998.7:c.535C>G | ENSP00000414004.3:p.Gln179Glu | |
| ENST00000638732.1:n.556C>G | ||
| ENST00000372470.7:c.556C>G | ENSP00000361548.3:p.Gln186Glu | |
| ENST00000413998.6:c.556C>G | ENSP00000414004.2:p.Gln186Glu | |
| ENST00000612993.1:c.556C>G | ENSP00000480273.1:p.Gln186Glu | |
| NM_005373.2:c.556C>G , LRG_510t1:c.556C>G | NP_005364.1:p.Gln186Glu | |
| XM_011541478.1:c.535C>G | XP_011539780.1:p.Gln179Glu | |
| XM_017001320.1:c.727C>G | XP_016856809.1:p.Gln243Glu | |
| NM_005373.3:c.556C>G MANE Select | NP_005364.1:p.Gln186Glu |