Revel Score:
ENST00000262418 (MANE Select)
0.898
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44253150C>T , CM000679.2:g.44253150C>T | GRCh38 |
| NC_000017.10:g.42330518C>T , CM000679.1:g.42330518C>T | GRCh37 |
| NC_000017.9:g.39686044C>T | NCBI36 |
| NG_007498.1:g.19985G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262418.12:c.2279G>A MANE Select | ENSP00000262418.6:p.Arg760Gln | |
| ENST00000262418.10:c.2279G>A | ENSP00000262418.6:p.Arg760Gln | |
| ENST00000399246.3:c.1181G>A | ENSP00000382190.3:p.Arg394Gln | |
| NM_000342.3:c.2279G>A | NP_000333.1:p.Arg760Gln | |
| XM_005257593.3:c.2084G>A | XP_005257650.1:p.Arg695Gln | |
| XM_011525129.1:c.2189G>A | XP_011523431.1:p.Arg730Gln | |
| XM_011525130.1:c.2279G>A | XP_011523432.1:p.Arg760Gln | |
| XM_005257593.5:c.2084G>A | XP_005257650.1:p.Arg695Gln | |
| XM_011525129.2:c.2189G>A | XP_011523431.1:p.Arg730Gln | |
| NM_000342.4:c.2279G>A MANE Select | NP_000333.1:p.Arg760Gln |