Revel Score:
ENST00000357162 (MANE Select)
0.074
ENST00000358544 (MANE Plus Clinical)
0.074
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00514248 (AFR)
Genomes Max Group AF
0.00510554 (AFR)
Exomes Max Group AF
0.00479064 (AFR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99848885A>T , CM000670.2:g.99848885A>T | GRCh38 |
| NC_000008.10:g.100861113A>T , CM000670.1:g.100861113A>T | GRCh37 |
| NC_000008.9:g.100930289A>T | NCBI36 |
| NG_007098.2:g.840620A>T , LRG_351:g.840620A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.10127A>T | ENSP00000507923.1:p.Asn3376Ile | |
| ENST00000682358.1:n.10197A>T | ||
| ENST00000683334.1:c.*5809A>T | ENSP00000507369.1:n.*5809A>T | |
| ENST00000357162.7:c.10052A>T MANE Select | ENSP00000349685.2:p.Asn3351Ile | |
| ENST00000358544.7:c.10127A>T MANE Plus Clinical | ENSP00000351346.2:p.Asn3376Ile | |
| ENST00000357162.6:c.10052A>T | ENSP00000349685.2:p.Asn3351Ile | |
| ENST00000358544.6:c.10127A>T | ENSP00000351346.2:p.Asn3376Ile | |
| NM_017890.4:c.10127A>T , LRG_351t1:c.10127A>T | NP_060360.3:p.Asn3376Ile | |
| NM_152564.4:c.10052A>T , LRG_351t2:c.10052A>T | NP_689777.3:p.Asn3351Ile | |
| XM_005250800.2:c.10127A>T | XP_005250857.1:p.Asn3376Ile | |
| XM_005250801.3:c.10127A>T | XP_005250858.1:p.Asn3376Ile | |
| XM_011516848.1:c.10124A>T | XP_011515150.1:p.Asn3375Ile | |
| XM_011516849.1:c.10049A>T | XP_011515151.1:p.Asn3350Ile | |
| XM_011516850.1:c.9749A>T | XP_011515152.1:p.Asn3250Ile | |
| XM_011516851.1:c.7013A>T | XP_011515153.1:p.Asn2338Ile | |
| XM_011516852.1:c.7013A>T | XP_011515154.1:p.Asn2338Ile | |
| XM_011516854.1:c.5906A>T | XP_011515156.1:p.Asn1969Ile | |
| XM_005250800.3:c.10127A>T | XP_005250857.1:p.Asn3376Ile | |
| XM_005250801.5:c.10127A>T | XP_005250858.1:p.Asn3376Ile | |
| XM_011516848.2:c.10124A>T | XP_011515150.1:p.Asn3375Ile | |
| XM_011516849.2:c.10049A>T | XP_011515151.1:p.Asn3350Ile | |
| XM_011516850.2:c.9749A>T | XP_011515152.1:p.Asn3250Ile | |
| XM_011516851.2:c.7013A>T | XP_011515153.1:p.Asn2338Ile | |
| XM_011516852.2:c.7013A>T | XP_011515154.1:p.Asn2338Ile | |
| XM_011516854.2:c.5906A>T | XP_011515156.1:p.Asn1969Ile | |
| XM_017013109.1:c.9932A>T | XP_016868598.1:p.Asn3311Ile | |
| XM_017013111.1:c.7013A>T | XP_016868600.1:p.Asn2338Ile | |
| XM_017013112.1:c.5684A>T | XP_016868601.1:p.Asn1895Ile | |
| XM_024447074.1:c.8912A>T | XP_024302842.1:p.Asn2971Ile | |
| NM_017890.5:c.10127A>T MANE Plus Clinical | NP_060360.3:p.Asn3376Ile | |
| NM_152564.5:c.10052A>T MANE Select | NP_689777.3:p.Asn3351Ile |