Revel Score:
ENST00000369951 (MANE Select)
0.710
ENST00000442922
0.710
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154154602T>C , CM000685.2:g.154154602T>C | GRCh38 |
| NC_000023.10:g.153420077T>C , CM000685.1:g.153420077T>C | GRCh37 |
| NC_000023.9:g.153073271T>C | NCBI36 |
| NG_009105.2:g.15352T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369951.9:c.607T>C MANE Select | ENSP00000358967.4:p.Cys203Arg | |
| ENST00000369951.8:c.607T>C | ENSP00000358967.4:p.Cys203Arg | |
| ENST00000442922.1:c.196T>C | ENSP00000402493.1:p.Cys66Arg | |
| ENST00000463296.1:n.588+1494T>C | ||
| NM_020061.5:c.607T>C | NP_064445.2:p.Cys203Arg | |
| NM_020061.6:c.607T>C MANE Select | NP_064445.2:p.Cys203Arg |