Revel Score:
ENST00000260947 (MANE Select)
0.010
ENST00000432456
0.010
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214728906T>C , CM000664.2:g.214728906T>C | GRCh38 |
| NC_000002.11:g.215593630T>C , CM000664.1:g.215593630T>C | GRCh37 |
| NC_000002.10:g.215301875T>C | NCBI36 |
| NG_012047.2:g.85799A>G | |
| NG_012047.3:g.85806A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.2104A>G MANE Select | ENSP00000260947.4:p.Ile702Val | |
| ENST00000421162.2:c.751A>G | ENSP00000392245.2:p.Ile251Val | |
| ENST00000613192.2:c.*167A>G | ENSP00000483275.2:n.*167A>G | |
| ENST00000613374.5:c.694A>G | ENSP00000484464.1:p.Ile232Val | |
| ENST00000613706.5:c.1696A>G | ENSP00000484976.2:p.Ile566Val | |
| ENST00000617164.5:c.2047A>G | ENSP00000480470.1:p.Ile683Val | |
| ENST00000619009.5:c.565A>G | ENSP00000482293.1:p.Ile189Val | |
| ENST00000650978.1:c.3479A>G | ||
| ENST00000260947.8:c.2104A>G | ENSP00000260947.4:p.Ile702Val | |
| ENST00000432456.5:c.247A>G | ||
| ENST00000455743.5:c.*1724A>G | ENSP00000412186.1:n.*1724A>G | |
| ENST00000471590.5:n.439A>G | ||
| ENST00000613192.1:c.274A>G | ENSP00000483275.1:p.Ile92Val | |
| ENST00000613374.4:c.694A>G | ENSP00000484464.1:p.Ile232Val | |
| ENST00000613706.4:c.751A>G | ENSP00000484976.1:p.Ile251Val | |
| ENST00000617164.4:c.2047A>G | ENSP00000480470.1:p.Ile683Val | |
| ENST00000619009.4:c.565A>G | ENSP00000482293.1:p.Ile189Val | |
| ENST00000620057.4:c.*770A>G | ENSP00000481988.1:n.*770A>G | |
| NM_000465.3:c.2104A>G | NP_000456.2:p.Ile702Val | |
| NM_001282543.1:c.2047A>G | NP_001269472.1:p.Ile683Val | |
| NM_001282545.1:c.751A>G | NP_001269474.1:p.Ile251Val | |
| NM_001282548.1:c.694A>G | NP_001269477.1:p.Ile232Val | |
| NM_001282549.1:c.565A>G | NP_001269478.1:p.Ile189Val | |
| NR_104212.1:n.2097A>G | ||
| NR_104215.1:n.2040A>G | ||
| NR_104216.1:n.1296A>G | ||
| XM_011511567.1:c.2050A>G | XP_011509869.1:p.Ile684Val | |
| XM_017004613.1:c.2203A>G | XP_016860102.1:p.Ile735Val | |
| XR_002959322.1:n.2470A>G | ||
| NM_000465.4:c.2104A>G MANE Select | NP_000456.2:p.Ile702Val | |
| NM_001282543.2:c.2047A>G | NP_001269472.1:p.Ile683Val | |
| NM_001282545.2:c.751A>G | NP_001269474.1:p.Ile251Val | |
| NM_001282548.2:c.694A>G | NP_001269477.1:p.Ile232Val | |
| NM_001282549.2:c.565A>G | NP_001269478.1:p.Ile189Val | |
| NR_104212.2:n.2069A>G | ||
| NR_104215.2:n.2012A>G | ||
| NR_104216.2:n.1268A>G |