Revel Score:
ENST00000355349 (MANE Select)
0.504
ENST00000544444
0.504
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001567 (NFE)
Exomes Max Group AF
0.00001663 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23427701A>G , CM000676.2:g.23427701A>G | GRCh38 |
| NC_000014.8:g.23896910A>G , CM000676.1:g.23896910A>G | GRCh37 |
| NC_000014.7:g.22966750A>G | NCBI36 |
| NG_007884.1:g.12961T>C , LRG_384:g.12961T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.1772T>C MANE Select | ENSP00000347507.3:p.Ile591Thr | |
| ENST00000355349.3:c.1772T>C | ENSP00000347507.3:p.Ile591Thr | |
| NM_000257.3:c.1772T>C | NP_000248.2:p.Ile591Thr | |
| XR_245686.3:n.1878T>C | ||
| XM_017021340.1:c.1772T>C | XP_016876829.1:p.Ile591Thr | |
| NM_000257.4:c.1772T>C MANE Select | NP_000248.2:p.Ile591Thr |