Revel Score:
ENST00000328843
0.112
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00262464 (NFE)
Genomes Max Group AF
0.00277731 (AMR)
Exomes Max Group AF
0.00263416 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21615262T>C , CM000669.2:g.21615262T>C | GRCh38 |
| NC_000007.13:g.21654880T>C , CM000669.1:g.21654880T>C | GRCh37 |
| NC_000007.12:g.21621405T>C | NCBI36 |
| NG_012886.2:g.77048T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.4001T>C MANE Select | ENSP00000475939.1:p.Ile1334Thr | |
| ENST00000328843.10:c.4001T>C | ENSP00000330671.7:p.Ile1334Thr | |
| ENST00000409508.7:c.4001T>C | ENSP00000475939.1:p.Ile1334Thr | |
| ENST00000620169.4:c.4001T>C | ENSP00000481693.1:p.Ile1334Thr | |
| NM_001277115.1:c.4001T>C | NP_001264044.1:p.Ile1334Thr | |
| NM_001277115.2:c.4001T>C MANE Select | NP_001264044.1:p.Ile1334Thr |