Revel Score:
ENST00000438045
0.256
ENST00000248633 (MANE Select)
0.256
ENST00000428214
0.256
ENST00000545192
0.256
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.0000019 (NFE)
Exomes Max Group AF
0.00000203 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92511022T>C , CM000669.2:g.92511022T>C | GRCh38 |
| NC_000007.13:g.92140336T>C , CM000669.1:g.92140336T>C | GRCh37 |
| NC_000007.12:g.91978272T>C | NCBI36 |
| NG_008341.1:g.22510A>G | |
| NG_008341.2:g.22510A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.1509A>G MANE Select | ENSP00000248633.4:p.Ile503Met | |
| ENST00000248633.8:c.1509A>G | ENSP00000248633.4:p.Ile503Met | |
| ENST00000422866.1:c.410A>G | ||
| ENST00000428214.5:c.1509A>G | ENSP00000394413.1:p.Ile503Met | |
| ENST00000438045.5:c.543A>G | ENSP00000410438.1:p.Ile181Met | |
| ENST00000476923.1:n.270A>G | ||
| ENST00000484913.5:n.1548A>G | ||
| NM_000466.2:c.1509A>G | NP_000457.1:p.Ile503Met | |
| NM_001282677.1:c.1509A>G | NP_001269606.1:p.Ile503Met | |
| NM_001282678.1:c.885A>G | NP_001269607.1:p.Ile295Met | |
| XM_005250433.3:c.-158A>G | XP_005250490.1:n.-158A>G | |
| XR_242246.3:n.1605A>G | ||
| XM_017012319.2:c.-158A>G | XP_016867808.1:n.-158A>G | |
| XR_001744808.2:n.619A>G | ||
| XR_242246.5:n.1556A>G | ||
| NM_000466.3:c.1509A>G MANE Select | NP_000457.1:p.Ile503Met | |
| NM_001282677.2:c.1509A>G | NP_001269606.1:p.Ile503Met | |
| NM_001282678.2:c.885A>G | NP_001269607.1:p.Ile295Met |