Revel Score:
ENST00000204961 (MANE Select)
0.645
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.68839729A>C , CM000685.2:g.68839729A>C | GRCh38 |
| NC_000023.10:g.68059572A>C , CM000685.1:g.68059572A>C | GRCh37 |
| NC_000023.9:g.67976297A>C | NCBI36 |
| NG_008887.1:g.15733A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000204961.5:c.472A>C MANE Select | ENSP00000204961.4:p.Met158Leu | |
| ENST00000204961.4:c.472A>C | ENSP00000204961.4:p.Met158Leu | |
| NM_004429.4:c.472A>C | NP_004420.1:p.Met158Leu | |
| NM_004429.5:c.472A>C MANE Select | NP_004420.1:p.Met158Leu |