Revel Score:
ENST00000263321 (MANE Select)
0.979
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003775 (NFE)
Exomes Max Group AF
0.00004006 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89227897A>T , CM000673.2:g.89227897A>T | GRCh38 |
| NC_000011.9:g.88961065A>T , CM000673.1:g.88961065A>T | GRCh37 |
| NC_000011.8:g.88600713A>T | NCBI36 |
| NG_008748.1:g.55026A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263321.6:c.1111A>T MANE Select | ENSP00000263321.4:p.Asn371Tyr | |
| ENST00000263321.5:c.1111A>T | ENSP00000263321.4:p.Asn371Tyr | |
| NM_000372.4:c.1111A>T | NP_000363.1:p.Asn371Tyr | |
| XM_011542970.1:c.1111A>T | XP_011541272.1:p.Asn371Tyr | |
| XM_011542970.2:c.1111A>T | XP_011541272.1:p.Asn371Tyr | |
| XR_001748321.1:n.2717+43563T>A | ||
| XR_001748322.1:n.2732+43563T>A | ||
| NM_000372.5:c.1111A>T MANE Select | NP_000363.1:p.Asn371Tyr |