Revel Score:
ENST00000260947 (MANE Select)
0.111
ENST00000432456
0.111
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002585 (NFE)
Exomes Max Group AF
0.00002711 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214728935A>G , CM000664.2:g.214728935A>G | GRCh38 |
| NC_000002.11:g.215593659A>G , CM000664.1:g.215593659A>G | GRCh37 |
| NC_000002.10:g.215301904A>G | NCBI36 |
| NG_012047.2:g.85770T>C | |
| NG_012047.3:g.85777T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.2075T>C MANE Select | ENSP00000260947.4:p.Ile692Thr | |
| ENST00000421162.2:c.722T>C | ENSP00000392245.2:p.Ile241Thr | |
| ENST00000613192.2:c.*138T>C | ENSP00000483275.2:n.*138T>C | |
| ENST00000613374.5:c.665T>C | ENSP00000484464.1:p.Ile222Thr | |
| ENST00000613706.5:c.1667T>C | ENSP00000484976.2:p.Ile556Thr | |
| ENST00000617164.5:c.2018T>C | ENSP00000480470.1:p.Ile673Thr | |
| ENST00000619009.5:c.536T>C | ENSP00000482293.1:p.Ile179Thr | |
| ENST00000650978.1:c.3450T>C | ||
| ENST00000260947.8:c.2075T>C | ENSP00000260947.4:p.Ile692Thr | |
| ENST00000432456.5:c.218T>C | ||
| ENST00000455743.5:c.*1695T>C | ENSP00000412186.1:n.*1695T>C | |
| ENST00000471590.5:n.410T>C | ||
| ENST00000613192.1:c.245T>C | ENSP00000483275.1:p.Ile82Thr | |
| ENST00000613374.4:c.665T>C | ENSP00000484464.1:p.Ile222Thr | |
| ENST00000613706.4:c.722T>C | ENSP00000484976.1:p.Ile241Thr | |
| ENST00000617164.4:c.2018T>C | ENSP00000480470.1:p.Ile673Thr | |
| ENST00000619009.4:c.536T>C | ENSP00000482293.1:p.Ile179Thr | |
| ENST00000620057.4:c.*741T>C | ENSP00000481988.1:n.*741T>C | |
| NM_000465.3:c.2075T>C | NP_000456.2:p.Ile692Thr | |
| NM_001282543.1:c.2018T>C | NP_001269472.1:p.Ile673Thr | |
| NM_001282545.1:c.722T>C | NP_001269474.1:p.Ile241Thr | |
| NM_001282548.1:c.665T>C | NP_001269477.1:p.Ile222Thr | |
| NM_001282549.1:c.536T>C | NP_001269478.1:p.Ile179Thr | |
| NR_104212.1:n.2068T>C | ||
| NR_104215.1:n.2011T>C | ||
| NR_104216.1:n.1267T>C | ||
| XM_011511567.1:c.2021T>C | XP_011509869.1:p.Ile674Thr | |
| XM_017004613.1:c.2174T>C | XP_016860102.1:p.Ile725Thr | |
| XR_002959322.1:n.2441T>C | ||
| NM_000465.4:c.2075T>C MANE Select | NP_000456.2:p.Ile692Thr | |
| NM_001282543.2:c.2018T>C | NP_001269472.1:p.Ile673Thr | |
| NM_001282545.2:c.722T>C | NP_001269474.1:p.Ile241Thr | |
| NM_001282548.2:c.665T>C | NP_001269477.1:p.Ile222Thr | |
| NM_001282549.2:c.536T>C | NP_001269478.1:p.Ile179Thr | |
| NR_104212.2:n.2040T>C | ||
| NR_104215.2:n.1983T>C | ||
| NR_104216.2:n.1239T>C |