ClinVar Variation:
COSMIC:
COSM4987490
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.18353274 (AMR)
Genomes Max Group AF
0.14176734 (AMR)
Exomes Max Group AF
0.1965096 (AMR)
Revel Score:
ENST00000409059
0.324
ENST00000264047 (MANE Select)
0.324
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.107992192A>G , CM000664.2:g.107992192A>G | GRCh38 |
| NC_000002.11:g.108608648A>G , CM000664.1:g.108608648A>G | GRCh37 |
| NC_000002.10:g.107975080A>G | NCBI36 |
| NG_042267.1:g.10679A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264047.3:c.265A>G MANE Select | ENSP00000264047.2:p.Ile89Val | |
| ENST00000264047.2:c.265A>G | ENSP00000264047.2:p.Ile89Val | |
| ENST00000409059.5:c.265A>G | ENSP00000387346.1:p.Ile89Val | |
| NM_001305005.1:c.265A>G | NP_001291934.1:p.Ile89Val | |
| NM_001305005.2:c.265A>G | NP_001291934.1:p.Ile89Val | |
| NM_001305006.1:c.-51A>G | NP_001291935.1:n.-51A>G | |
| NM_001305006.2:c.-51A>G | NP_001291935.1:n.-51A>G | |
| NM_001305007.1:c.-440A>G | NP_001291936.1:n.-440A>G | |
| NM_001305007.2:c.-440A>G | NP_001291936.1:n.-440A>G | |
| NM_021815.3:c.265A>G | NP_068587.1:p.Ile89Val | |
| NM_021815.4:c.265A>G | NP_068587.1:p.Ile89Val | |
| XM_011511579.1:c.179-780A>G | XP_011509881.1:n.179-780A>G | |
| XM_017004628.1:c.179-780A>G | XP_016860117.1:n.179-780A>G | |
| XM_017004629.2:c.-66A>G | XP_016860118.1:n.-66A>G | |
| NM_001305005.3:c.265A>G | NP_001291934.1:p.Ile89Val | |
| NM_001305006.3:c.-51A>G | NP_001291935.1:n.-51A>G | |
| NM_001305007.3:c.-440A>G | NP_001291936.1:n.-440A>G | |
| NM_021815.5:c.265A>G MANE Select | NP_068587.1:p.Ile89Val |