Revel Score:
ENST00000375448 (MANE Select)
0.069
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.02816364 (MID)
Genomes Max Group AF
0.02343868 (NFE)
Exomes Max Group AF
0.02862071 (MID)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17336210G>C , CM000663.2:g.17336210G>C | GRCh38 |
| NC_000001.10:g.17662705G>C , CM000663.1:g.17662705G>C | GRCh37 |
| NC_000001.9:g.17535292G>C | NCBI36 |
| NG_023261.2:g.33021G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375448.4:c.392G>C MANE Select | ENSP00000364597.4:p.Arg131Thr | |
| NM_012387.2:c.392G>C | NP_036519.2:p.Arg131Thr | |
| XM_011541150.1:c.340+2201G>C | XP_011539452.1:n.340+2201G>C | |
| XM_011541151.1:c.392G>C | XP_011539453.1:p.Arg131Thr | |
| XM_011541152.1:c.-28G>C | XP_011539454.1:n.-28G>C | |
| XM_011541153.1:c.392G>C | XP_011539455.1:p.Arg131Thr | |
| XM_011541154.1:c.392G>C | XP_011539456.1:p.Arg131Thr | |
| XM_011541155.1:c.392G>C | XP_011539457.1:p.Arg131Thr | |
| XM_011541156.1:c.392G>C | XP_011539458.1:p.Arg131Thr | |
| XM_011541157.1:c.-321G>C | XP_011539459.1:n.-321G>C | |
| XM_011541154.2:c.392G>C | XP_011539456.1:p.Arg131Thr | |
| NM_012387.3:c.392G>C MANE Select | NP_036519.2:p.Arg131Thr |