dbSNP:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000384 (SAS)
Exomes Max Group AF
0.00000407 (SAS)
Revel Score:
ENST00000345060 (MANE Select)
0.131
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37966015C>A , CM000670.2:g.37966015C>A | GRCh38 |
| NC_000008.10:g.37823533C>A , CM000670.1:g.37823533C>A | GRCh37 |
| NC_000008.9:g.37942690C>A | NCBI36 |
| NG_011936.1:g.5652G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.455G>T MANE Select | ENSP00000343782.3:p.Arg152Leu | |
| ENST00000520341.2:n.583G>T | ||
| ENST00000345060.4:c.455G>T | ENSP00000343782.3:p.Arg152Leu | |
| ENST00000614635.1:c.455G>T | ENSP00000480325.1:p.Arg152Leu | |
| NM_000025.2:c.455G>T | NP_000016.1:p.Arg152Leu | |
| NM_000025.3:c.455G>T MANE Select | NP_000016.1:p.Arg152Leu |