Revel Score:
ENST00000395925 (MANE Select)
0.102
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00094769 (NFE)
Genomes Max Group AF
0.00040506 (NFE)
Exomes Max Group AF
0.00097326 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.41967782T>C , CM000669.2:g.41967782T>C | GRCh38 |
| NC_000007.13:g.42007380T>C , CM000669.1:g.42007380T>C | GRCh37 |
| NC_000007.12:g.41973905T>C | NCBI36 |
| NG_008434.1:g.274239A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395925.8:c.2245A>G MANE Select | ENSP00000379258.3:p.Ile749Val | |
| ENST00000677288.1:c.2071A>G | ENSP00000503986.1:p.Ile691Val | |
| ENST00000677605.1:c.2245A>G | ENSP00000503743.1:p.Ile749Val | |
| ENST00000678429.1:c.2245A>G | ENSP00000502957.1:p.Ile749Val | |
| ENST00000395925.7:c.2245A>G | ENSP00000379258.3:p.Ile749Val | |
| ENST00000479210.1:n.2222A>G | ||
| NM_000168.5:c.2245A>G | NP_000159.3:p.Ile749Val | |
| XM_005249703.1:c.2245A>G | XP_005249760.1:p.Ile749Val | |
| XM_005249704.2:c.2245A>G | XP_005249761.1:p.Ile749Val | |
| XM_011515272.1:c.2245A>G | XP_011513574.1:p.Ile749Val | |
| XM_011515273.1:c.2245A>G | XP_011513575.1:p.Ile749Val | |
| XM_011515274.1:c.2068A>G | XP_011513576.1:p.Ile690Val | |
| XM_011515274.2:c.2068A>G | XP_011513576.1:p.Ile690Val | |
| XM_017011997.1:c.2242A>G | XP_016867486.1:p.Ile748Val | |
| NM_000168.6:c.2245A>G MANE Select | NP_000159.3:p.Ile749Val |