Revel Score:
ENST00000540067
0.202
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003937 (NFE)
Exomes Max Group AF
0.00004178 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96809338C>T , CM000664.2:g.96809338C>T | GRCh38 |
| NC_000002.11:g.97475075C>T , CM000664.1:g.97475075C>T | GRCh37 |
| NC_000002.10:g.96838802C>T | NCBI36 |
| NG_016608.1:g.53437C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377075.3:c.2149C>T MANE Select | ENSP00000366275.2:p.Gln717Ter | |
| ENST00000377075.2:c.2149C>T | ENSP00000366275.2:p.Gln717Ter | |
| NM_020184.3:c.2149C>T | NP_064569.3:p.Gln717Ter | |
| XM_005263914.2:c.2212C>T | XP_005263971.1:p.Gln738Ter | |
| XM_005263915.2:c.2237C>T | XP_005263972.1:p.Pro746Leu | |
| XM_005263914.4:c.2212C>T | XP_005263971.1:p.Gln738Ter | |
| XM_005263915.4:c.2237C>T | XP_005263972.1:p.Pro746Leu | |
| XM_017003799.1:c.610C>T | XP_016859288.1:p.Gln204Ter | |
| NM_020184.4:c.2149C>T MANE Select | NP_064569.3:p.Gln717Ter |