Revel Score:
ENST00000392539 (MANE Select)
0.940
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.176094662A>C , CM000664.2:g.176094662A>C | GRCh38 |
| NC_000002.11:g.176959390A>C , CM000664.1:g.176959390A>C | GRCh37 |
| NC_000002.10:g.176667636A>C | NCBI36 |
| NG_008137.1:g.6859A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392539.4:c.964A>C MANE Select | ENSP00000376322.3:p.Ile322Leu | |
| ENST00000392539.3:c.964A>C | ENSP00000376322.3:p.Ile322Leu | |
| NM_000523.3:c.964A>C | NP_000514.2:p.Ile322Leu | |
| XM_011511068.1:c.907A>C | XP_011509370.1:p.Ile303Leu | |
| XM_011511068.2:c.907A>C | XP_011509370.1:p.Ile303Leu | |
| NM_000523.4:c.964A>C MANE Select | NP_000514.2:p.Ile322Leu |