COSMIC:
COSM3750478 (not active)
Revel Score:
ENST00000368148
0.176
ENST00000368147
0.176
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.28141867 (NFE)
Genomes Max Group AF
0.28479678 (NFE)
Exomes Max Group AF
0.28102982 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.158627717G>C , CM000663.2:g.158627717G>C | GRCh38 |
| NC_000001.10:g.158597507G>C , CM000663.1:g.158597507G>C | GRCh37 |
| NC_000001.9:g.156864131G>C | NCBI36 |
| NG_011474.1:g.64000C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643759.2:c.5572C>G MANE Select | ENSP00000495214.1:p.Leu1858Val | |
| ENST00000368147.8:c.5572C>G | ENSP00000357129.4:p.Leu1858Val | |
| ENST00000461624.1:n.118C>G | ||
| ENST00000614909.4:c.5572C>G | ENSP00000482595.1:p.Leu1858Val | |
| NM_003126.2:c.5572C>G | NP_003117.2:p.Leu1858Val | |
| XM_011509916.1:c.5572C>G | XP_011508218.1:p.Leu1858Val | |
| XM_011509917.1:c.5572C>G | XP_011508219.1:p.Leu1858Val | |
| XM_011509918.1:c.5572C>G | XP_011508220.1:p.Leu1858Val | |
| XR_921911.1:n.5679-1495C>G | ||
| NM_003126.3:c.5572C>G | NP_003117.2:p.Leu1858Val | |
| XM_011509916.2:c.5572C>G | XP_011508218.1:p.Leu1858Val | |
| XM_011509917.3:c.5572C>G | XP_011508219.1:p.Leu1858Val | |
| XM_011509918.3:c.5572C>G | XP_011508220.1:p.Leu1858Val | |
| XR_921911.3:n.5692-1495C>G | ||
| NM_003126.4:c.5572C>G MANE Select | NP_003117.2:p.Leu1858Val |