Revel Score:
ENST00000261623 (MANE Select)
0.875
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88646761T>C , CM000678.2:g.88646761T>C | GRCh38 |
| NC_000016.9:g.88713169T>C , CM000678.1:g.88713169T>C | GRCh37 |
| NC_000016.8:g.87240670T>C | NCBI36 |
| NG_007291.1:g.9289A>G , LRG_52:g.9289A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000565588.6:c.281A>G | ENSP00000455537.2:p.His94Arg | |
| ENST00000696156.1:c.203+340A>G | ENSP00000512446.1:n.203+340A>G | |
| ENST00000696157.1:c.281A>G | ENSP00000512447.1:p.His94Arg | |
| ENST00000696158.1:c.281A>G | ENSP00000512448.1:p.His94Arg | |
| ENST00000696159.1:c.281A>G | ENSP00000512449.1:p.His94Arg | |
| ENST00000696160.1:c.281A>G | ENSP00000512450.1:p.His94Arg | |
| ENST00000696161.1:c.411A>G | ENSP00000512451.1:p.Ala137= | |
| ENST00000696162.1:c.281A>G | ENSP00000512452.1:p.His94Arg | |
| ENST00000696163.1:c.230A>G | ENSP00000512453.1:p.His77Arg | |
| ENST00000261623.8:c.281A>G MANE Select | ENSP00000261623.3:p.His94Arg | |
| ENST00000261623.7:c.281A>G | ENSP00000261623.3:p.His94Arg | |
| ENST00000562209.1:n.561A>G | ||
| ENST00000563526.5:n.256A>G | ||
| ENST00000565588.5:c.65A>G | ||
| ENST00000566229.1:c.270A>G | ENSP00000457060.1:p.Ala90= | |
| ENST00000566534.5:n.303A>G | ||
| ENST00000567174.5:c.281A>G | ENSP00000454951.1:p.His94Arg | |
| ENST00000568278.1:c.281A>G | ENSP00000455506.1:p.His94Arg | |
| ENST00000569359.5:c.281A>G | ENSP00000456079.1:p.His94Arg | |
| NM_000101.3:c.281A>G | NP_000092.2:p.His94Arg | |
| XM_011522905.1:c.281A>G | XP_011521207.1:p.His94Arg | |
| XM_011522905.3:c.281A>G | XP_011521207.1:p.His94Arg | |
| NM_000101.4:c.281A>G MANE Select | NP_000092.2:p.His94Arg |