ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00066425 (AMR)
Genomes Max Group AF
0.00030653 (AMR)
Exomes Max Group AF
0.00071537 (AMR)
Revel Score:
ENST00000426016
0.136
ENST00000402219 (MANE Select)
0.136
ENST00000395038
0.136
ENST00000263879
0.136
ENST00000428721
0.136
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.39054781T>C , CM000664.2:g.39054781T>C | GRCh38 |
| NC_000002.11:g.39281922T>C , CM000664.1:g.39281922T>C | GRCh37 |
| NC_000002.10:g.39135426T>C | NCBI36 |
| NG_007530.1:g.70683A>G , LRG_754:g.70683A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461545.2:n.580A>G | ||
| ENST00000685782.1:n.1391A>G | ||
| ENST00000688189.1:n.318A>G | ||
| ENST00000689668.1:n.560A>G | ||
| ENST00000690679.1:c.653A>G | ||
| ENST00000690876.1:c.553A>G | ENSP00000508955.1:p.Ile185Val | |
| ENST00000691229.1:c.553A>G | ENSP00000510437.1:p.Ile185Val | |
| ENST00000692089.1:c.553A>G | ENSP00000508626.1:p.Ile185Val | |
| ENST00000402219.8:c.553A>G MANE Select | ENSP00000384675.2:p.Ile185Val | |
| ENST00000395038.6:c.553A>G | ENSP00000378479.2:p.Ile185Val | |
| ENST00000402219.6:c.553A>G | ENSP00000384675.2:p.Ile185Val | |
| ENST00000426016.5:c.553A>G | ENSP00000387784.1:p.Ile185Val | |
| NM_005633.3:c.553A>G , LRG_754t1:c.553A>G | NP_005624.2:p.Ile185Val | |
| XM_005264515.3:c.553A>G | XP_005264572.1:p.Ile185Val | |
| XM_011533060.1:c.646A>G | XP_011531362.1:p.Ile216Val | |
| XM_011533061.1:c.646A>G | XP_011531363.1:p.Ile216Val | |
| XM_011533062.1:c.532A>G | XP_011531364.1:p.Ile178Val | |
| XM_011533063.1:c.529A>G | XP_011531365.1:p.Ile177Val | |
| XM_011533064.1:c.382A>G | XP_011531366.1:p.Ile128Val | |
| XM_011533065.1:c.646A>G | XP_011531367.1:p.Ile216Val | |
| XM_005264515.4:c.553A>G | XP_005264572.1:p.Ile185Val | |
| XM_011533062.2:c.532A>G | XP_011531364.1:p.Ile178Val | |
| XM_011533064.2:c.382A>G | XP_011531366.1:p.Ile128Val | |
| NM_001382394.1:c.532A>G | NP_001369323.1:p.Ile178Val | |
| NM_001382395.1:c.553A>G | NP_001369324.1:p.Ile185Val | |
| NM_005633.4:c.553A>G MANE Select | NP_005624.2:p.Ile185Val |