Revel Score:
ENST00000240079 (MANE Select)
0.236
ENST00000545679
0.236
ENST00000542923
0.236
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102046095T>C , CM000674.2:g.102046095T>C | GRCh38 |
| NC_000012.11:g.102439873T>C , CM000674.1:g.102439873T>C | GRCh37 |
| NC_000012.10:g.100964003T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000240079.11:c.175A>G MANE Select | ENSP00000240079.6:p.Ile59Val | |
| ENST00000240079.10:c.175A>G | ENSP00000240079.6:p.Ile59Val | |
| ENST00000326351.11:n.204A>G | ||
| ENST00000500685.6:c.*63A>G | ENSP00000445501.1:n.*63A>G | |
| ENST00000535501.5:c.*92A>G | ENSP00000440139.1:n.*92A>G | |
| ENST00000538761.5:c.*130A>G | ENSP00000438122.1:n.*130A>G | |
| ENST00000539515.5:n.271A>G | ||
| ENST00000540536.5:c.175A>G | ENSP00000441810.1:p.Ile59Val | |
| ENST00000541569.5:n.191A>G | ||
| ENST00000542923.1:c.25A>G | ENSP00000443922.1:p.Ile9Val | |
| ENST00000544341.5:c.175A>G | ENSP00000440134.1:p.Ile59Val | |
| ENST00000545679.5:c.175A>G | ENSP00000443857.1:p.Ile59Val | |
| NM_001301107.1:c.175A>G | NP_001288036.1:p.Ile59Val | |
| NM_016053.3:c.175A>G | NP_057137.1:p.Ile59Val | |
| XM_011538423.1:c.175A>G | XP_011536725.1:p.Ile59Val | |
| XM_017019383.1:c.76A>G | XP_016874872.1:p.Ile26Val | |
| XM_024448998.1:c.76A>G | XP_024304766.1:p.Ile26Val | |
| NM_016053.4:c.175A>G MANE Select | NP_057137.1:p.Ile59Val |