dbSNP:
Revel Score:
ENST00000329905 (MANE Select)
0.027
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.103458495A>C , CM000672.2:g.103458495A>C | GRCh38 |
| NC_000010.10:g.105218252A>C , CM000672.1:g.105218252A>C | GRCh37 |
| NC_000010.9:g.105208242A>C | NCBI36 |
| NG_016855.1:g.5397T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329905.6:c.257T>G MANE Select | ENSP00000329926.6:p.Leu86Arg | |
| ENST00000329905.5:c.257T>G | ENSP00000329926.5:p.Leu86Arg | |
| NM_001001412.3:c.257T>G | NP_001001412.3:p.Leu86Arg | |
| NM_001001412.4:c.257T>G MANE Select | NP_001001412.3:p.Leu86Arg |