Revel Score:
ENST00000512123 (MANE Select)
0.549
ENST00000264895
0.211
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00664458 (AFR)
Genomes Max Group AF
0.00675324 (AFR)
Exomes Max Group AF
0.00605782 (AFR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78521576A>G , CM000666.2:g.78521576A>G | GRCh38 |
| NC_000004.11:g.79442730A>G , CM000666.1:g.79442730A>G | GRCh37 |
| NC_000004.10:g.79661754A>G | NCBI36 |
| NG_015812.1:g.469007A>G | |
| NG_015812.2:g.469007A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000512123.4:c.10594A>G MANE Select | ENSP00000422834.2:p.Ile3532Val | |
| ENST00000512123.3:c.10594A>G | ENSP00000422834.2:p.Ile3532Val | |
| NM_025074.6:c.10594A>G | NP_079350.5:p.Ile3532Val | |
| XM_006714314.1:c.10588A>G | XP_006714377.1:p.Ile3530Val | |
| XM_006714316.1:c.10366A>G | XP_006714379.1:p.Ile3456Val | |
| XM_011532270.1:c.8293A>G | XP_011530572.1:p.Ile2765Val | |
| XM_011532271.1:c.5482A>G | XP_011530573.1:p.Ile1828Val | |
| XM_006714316.3:c.10366A>G | XP_006714379.1:p.Ile3456Val | |
| NM_025074.7:c.10594A>G MANE Select | NP_079350.5:p.Ile3532Val |