Revel Score:
ENST00000203629 (MANE Select)
0.066
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.8284019 (EAS)
Genomes Max Group AF
0.81559417 (EAS)
Exomes Max Group AF
0.82783357 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6777854T>C , CM000674.2:g.6777854T>C | GRCh38 |
| NC_000012.11:g.6887020T>C , CM000674.1:g.6887020T>C | GRCh37 |
| NC_000012.10:g.6757281T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000203629.3:c.1364T>C MANE Select | ENSP00000203629.2:p.Ile455Thr | |
| ENST00000203629.2:c.1364T>C | ENSP00000203629.2:p.Ile455Thr | |
| ENST00000538079.1:n.1986T>C | ||
| ENST00000541049.1:n.405T>C | ||
| NM_002286.5:c.1364T>C | NP_002277.4:p.Ile455Thr | |
| XM_011520956.1:c.1121T>C | XP_011519258.1:p.Ile374Thr | |
| NM_002286.6:c.1364T>C MANE Select | NP_002277.4:p.Ile455Thr |