ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v4:
Revel Score:
ENST00000297784 (MANE Select)
0.885
ENST00000340019
0.885
ENST00000396235
0.885
ENST00000537917
0.885
ENST00000538054
0.885
ENST00000542143
0.885
ENST00000396237
0.885
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.72751859G>T , CM000671.2:g.72751859G>T | GRCh38 |
| NC_000009.11:g.75366775G>T , CM000671.1:g.75366775G>T | GRCh37 |
| NC_000009.10:g.74556595G>T | NCBI36 |
| NG_008213.1:g.235059G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297784.10:c.545G>T MANE Select | ENSP00000297784.6:p.Gly182Val | |
| ENST00000644967.1:c.107G>T | ENSP00000496159.1:p.Gly36Val | |
| ENST00000645053.1:c.107G>T | ENSP00000493838.1:p.Gly36Val | |
| ENST00000645208.2:c.545G>T | ENSP00000494684.1:p.Gly182Val | |
| ENST00000645773.1:c.419G>T | ENSP00000493698.1:p.Gly140Val | |
| ENST00000645787.1:n.585G>T | ||
| ENST00000646619.1:c.107G>T | ENSP00000493726.1:p.Gly36Val | |
| ENST00000650689.1:n.843G>T | ||
| ENST00000651183.1:c.107G>T | ENSP00000498723.1:p.Gly36Val | |
| ENST00000297784.9:c.545G>T | ENSP00000297784.5:p.Gly182Val | |
| ENST00000340019.4:c.545G>T | ENSP00000341433.3:p.Gly182Val | |
| NM_138691.2:c.545G>T | NP_619636.2:p.Gly182Val | |
| XM_011518213.1:c.1133G>T | XP_011516515.1:p.Gly378Val | |
| XM_017014256.1:c.548G>T | XP_016869745.1:p.Gly183Val | |
| NM_138691.3:c.545G>T MANE Select | NP_619636.2:p.Gly182Val |