Revel Score:
ENST00000305046 (MANE Select)
0.683
ENST00000394887
0.683
ENST00000412614
0.683
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99318166A>G , CM000666.2:g.99318166A>G | GRCh38 |
| NC_000004.11:g.100239323A>G , CM000666.1:g.100239323A>G | GRCh37 |
| NC_000004.10:g.100458346A>G | NCBI36 |
| NG_011435.1:g.8250T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305046.13:c.139T>C MANE Select | ENSP00000306606.8:p.Cys47Arg | |
| ENST00000639454.1:c.139T>C | ENSP00000491622.1:p.Cys47Arg | |
| ENST00000305046.12:c.139T>C | ENSP00000306606.8:p.Cys47Arg | |
| ENST00000504498.1:n.193T>C | ||
| ENST00000506651.5:c.19T>C | ENSP00000425998.2:p.Cys7Arg | |
| ENST00000515694.4:n.2234T>C | ||
| ENST00000625860.2:c.19T>C | ENSP00000486614.1:p.Cys7Arg | |
| ENST00000632775.1:n.702T>C | ||
| NM_000668.5:c.139T>C | NP_000659.2:p.Cys47Arg | |
| NM_001286650.1:c.19T>C | NP_001273579.1:p.Cys7Arg | |
| NM_000668.6:c.139T>C MANE Select | NP_000659.2:p.Cys47Arg | |
| NM_001286650.2:c.19T>C | NP_001273579.1:p.Cys7Arg |