ClinVar RCV:
ClinVar Variation:
COSMIC:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.03390315 (AMR)
Genomes Max Group AF
0.04166755 (AMR)
Exomes Max Group AF
0.03059794 (AMR)
Revel Score:
ENST00000543174
0.025
ENST00000265724
0.025
ENST00000543898
0.025
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87504335C>T , CM000669.2:g.87504335C>T | GRCh38 |
| NC_000007.13:g.87133651C>T , CM000669.1:g.87133651C>T | GRCh37 |
| NC_000007.12:g.86971587C>T | NCBI36 |
| NG_011513.1:g.213914G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265724.8:c.3751G>A | ENSP00000265724.3:p.Val1251Ile | |
| ENST00000622132.5:c.3751G>A MANE Select | ENSP00000478255.1:p.Val1251Ile | |
| ENST00000265724.7:c.3751G>A | ENSP00000265724.3:p.Val1251Ile | |
| ENST00000488737.6:n.1393G>A | ||
| ENST00000491360.1:n.360G>A | ||
| ENST00000543898.5:c.3559G>A | ENSP00000444095.1:p.Val1187Ile | |
| ENST00000622132.4:c.3751G>A | ENSP00000478255.1:p.Val1251Ile | |
| NM_000927.4:c.3751G>A | NP_000918.2:p.Val1251Ile | |
| NM_001348944.1:c.3751G>A | NP_001335873.1:p.Val1251Ile | |
| NM_001348945.1:c.3961G>A | NP_001335874.1:p.Val1321Ile | |
| NM_001348946.1:c.3751G>A | NP_001335875.1:p.Val1251Ile | |
| NM_001348946.2:c.3751G>A MANE Select | NP_001335875.1:p.Val1251Ile | |
| NM_000927.5:c.3751G>A | NP_000918.2:p.Val1251Ile | |
| NM_001348944.2:c.3751G>A | NP_001335873.1:p.Val1251Ile | |
| NM_001348945.2:c.3961G>A | NP_001335874.1:p.Val1321Ile |