Revel Score:
ENST00000518262
0.015
ENST00000305188 (MANE Select)
0.045
ENST00000397418
0.045
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00372097 (NFE)
Genomes Max Group AF
0.00346848 (NFE)
Exomes Max Group AF
0.00371578 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.27787965G>A , CM000670.2:g.27787965G>A | GRCh38 |
| NC_000008.10:g.27645482G>A , CM000670.1:g.27645482G>A | GRCh37 |
| NC_000008.9:g.27701401G>A | NCBI36 |
| NG_008117.1:g.18425G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305188.13:c.1094G>A MANE Select | ENSP00000306999.8:p.Arg365Lys | |
| ENST00000305188.12:c.1094G>A | ENSP00000306999.8:p.Arg365Lys | |
| ENST00000397418.4:c.38G>A | ENSP00000380563.2:p.Arg13Lys | |
| ENST00000518262.5:c.208G>A | ||
| ENST00000522378.5:c.*69G>A | ENSP00000428928.1:n.*69G>A | |
| NM_001017420.2:c.1094G>A | NP_001017420.1:p.Arg365Lys | |
| XM_011544421.1:c.1094G>A | XP_011542723.1:p.Arg365Lys | |
| XM_011544422.1:c.1094G>A | XP_011542724.1:p.Arg365Lys | |
| XR_949378.1:n.1178G>A | ||
| XR_949379.1:n.1178G>A | ||
| XM_011544421.2:c.1094G>A | XP_011542723.1:p.Arg365Lys | |
| XM_011544422.2:c.1094G>A | XP_011542724.1:p.Arg365Lys | |
| XR_949378.3:n.1178G>A | ||
| NM_001017420.3:c.1094G>A MANE Select | NP_001017420.1:p.Arg365Lys |