Revel Score:
ENST00000263642
0.121
ENST00000543192
0.121
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01985238 (NFE)
Genomes Max Group AF
0.0179714 (NFE)
Exomes Max Group AF
0.01992109 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.162268127T>C , CM000664.2:g.162268127T>C | GRCh38 |
| NC_000002.11:g.163124637T>C , CM000664.1:g.163124637T>C | GRCh37 |
| NC_000002.10:g.162832883T>C | NCBI36 |
| NG_011495.1:g.55403A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697291.1:c.*2364A>G | ENSP00000513228.1:n.*2364A>G | |
| ENST00000648433.1:c.2650A>G | ENSP00000496816.1:p.Ile884Val | |
| ENST00000649426.1:n.11A>G | ||
| ENST00000649554.1:n.2377A>G | ||
| ENST00000649979.2:c.2767A>G MANE Select | ENSP00000497271.1:p.Ile923Val | |
| ENST00000679938.1:c.2455A>G | ENSP00000505518.1:p.Ile819Val | |
| ENST00000263642.2:c.2767A>G | ENSP00000263642.2:p.Ile923Val | |
| NM_022168.3:c.2767A>G | NP_071451.2:p.Ile923Val | |
| XM_011511628.1:c.2050A>G | XP_011509930.1:p.Ile684Val | |
| NM_022168.4:c.2767A>G MANE Select | NP_071451.2:p.Ile923Val |