COSMIC:
COSM4985158 (not active)
Revel Score:
ENST00000255226 (MANE Select)
0.090
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.25371743 (EAS)
Genomes Max Group AF
0.28319541 (EAS)
Exomes Max Group AF
0.24857202 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.45672918G>A , CM000680.2:g.45672918G>A | GRCh38 |
| NC_000018.9:g.43252883G>A , CM000680.1:g.43252883G>A | GRCh37 |
| NC_000018.8:g.41506881G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255226.11:c.2248G>A MANE Select | ENSP00000255226.5:p.Val750Ile | |
| ENST00000255226.10:c.2248G>A | ENSP00000255226.5:p.Val750Ile | |
| ENST00000586448.5:c.2248G>A | ENSP00000465953.1:p.Val750Ile | |
| ENST00000589658.5:c.2248G>A | ENSP00000465349.2:p.Val750Ile | |
| NM_001242692.1:c.2248G>A | NP_001229621.1:p.Val750Ile | |
| NM_007163.3:c.2248G>A | NP_009094.3:p.Val750Ile | |
| XM_011526216.1:c.2248G>A | XP_011524518.1:p.Val750Ile | |
| XM_011526217.1:c.2113G>A | XP_011524519.1:p.Val705Ile | |
| XM_017026016.2:c.2113G>A | XP_016881505.1:p.Val705Ile | |
| XM_024451270.1:c.2248G>A | XP_024307038.1:p.Val750Ile | |
| XM_024451271.1:c.2248G>A | XP_024307039.1:p.Val750Ile | |
| XR_935423.2:n.872+19477C>T | ||
| NM_001242692.2:c.2248G>A | NP_001229621.1:p.Val750Ile | |
| NM_001371319.1:c.2248G>A | NP_001358248.1:p.Val750Ile | |
| NM_007163.4:c.2248G>A MANE Select | NP_009094.3:p.Val750Ile |