Revel Score:
ENST00000375135 (MANE Select)
0.903
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.54456233C>T , CM000685.2:g.54456233C>T | GRCh38 |
| NC_000023.10:g.54482666C>T , CM000685.1:g.54482666C>T | GRCh37 |
| NC_000023.9:g.54499391C>T | NCBI36 |
| NG_008054.1:g.44934G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375135.4:c.1829G>A MANE Select | ENSP00000364277.3:p.Arg610Gln | |
| ENST00000375135.3:c.1829G>A | ENSP00000364277.3:p.Arg610Gln | |
| NM_004463.2:c.1829G>A | NP_004454.2:p.Arg610Gln | |
| NM_004463.3:c.1829G>A MANE Select | NP_004454.2:p.Arg610Gln |