Revel Score:
ENST00000392539 (MANE Select)
0.710
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.176094662A>G , CM000664.2:g.176094662A>G | GRCh38 |
| NC_000002.11:g.176959390A>G , CM000664.1:g.176959390A>G | GRCh37 |
| NC_000002.10:g.176667636A>G | NCBI36 |
| NG_008137.1:g.6859A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392539.4:c.964A>G MANE Select | ENSP00000376322.3:p.Ile322Val | |
| ENST00000392539.3:c.964A>G | ENSP00000376322.3:p.Ile322Val | |
| NM_000523.3:c.964A>G | NP_000514.2:p.Ile322Val | |
| XM_011511068.1:c.907A>G | XP_011509370.1:p.Ile303Val | |
| XM_011511068.2:c.907A>G | XP_011509370.1:p.Ile303Val | |
| NM_000523.4:c.964A>G MANE Select | NP_000514.2:p.Ile322Val |