Revel Score:
ENST00000375499 (MANE Select)
0.896
gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17028628T>C , CM000663.2:g.17028628T>C | GRCh38 |
| NC_000001.10:g.17355123T>C , CM000663.1:g.17355123T>C | GRCh37 |
| NC_000001.9:g.17227710T>C | NCBI36 |
| NG_012340.1:g.30543A>G , LRG_316:g.30543A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.224A>G | ENSP00000481376.2:p.His75Arg | |
| ENST00000491274.6:c.353A>G | ENSP00000480482.2:p.His118Arg | |
| ENST00000375499.8:c.395A>G MANE Select | ENSP00000364649.3:p.His132Arg | |
| ENST00000375499.7:c.395A>G | ENSP00000364649.3:p.His132Arg | |
| ENST00000463045.2:c.224A>G | ENSP00000481376.1:p.His75Arg | |
| ENST00000475506.1:n.312A>G | ||
| ENST00000485515.5:n.357+26A>G | ||
| ENST00000491274.5:c.353A>G | ENSP00000480482.1:p.His118Arg | |
| NM_003000.2:c.395A>G , LRG_316t1:c.395A>G | NP_002991.2:p.His132Arg | |
| NM_003000.3:c.395A>G MANE Select | NP_002991.2:p.His132Arg |