Linked Data
ClinVar Variation Id:
52847
dbSNP Id:
rs80359221
gnomAD v2:
13-32969046-C-A
gnomAD v3:
13-32394909-C-A
gnomAD v4:
13-32394909-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32394909C>A , CM000675.2:g.32394909C>A | GRCh38 |
| NC_000013.10:g.32969046C>A , CM000675.1:g.32969046C>A | GRCh37 |
| NC_000013.9:g.31867046C>A | NCBI36 |
| NG_012772.3:g.84430C>A , LRG_293:g.84430C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.9477C>A | ENSP00000434898.2:p.Phe3159Leu | |
| ENST00000528762.2:c.*844C>A | ENSP00000433168.2:n.*844C>A | |
| ENST00000530893.7:c.9108C>A | ENSP00000499438.2:p.Phe3036Leu | |
| ENST00000665585.2:c.*1039C>A | ENSP00000499570.2:n.*1039C>A | |
| ENST00000666593.2:c.*322C>A | ENSP00000499256.2:n.*322C>A | |
| ENST00000700202.2:c.9426C>A | ENSP00000514856.2:p.Phe3142Leu | |
| ENST00000700202.1:c.1893C>A | ENSP00000514856.1:p.Phe631Leu | |
| ENST00000700203.1:n.1604C>A | ||
| ENST00000380152.8:c.9477C>A MANE Select | ENSP00000369497.3:p.Phe3159Leu | |
| ENST00000544455.6:c.9477C>A | ENSP00000439902.1:p.Phe3159Leu | |
| ENST00000614259.2:c.9485C>A | ENSP00000506251.1:n.9485C>A | |
| ENST00000665585.1:c.2355C>A | ||
| ENST00000666593.1:c.499C>A | ENSP00000499256.1:n.499C>A | |
| ENST00000680887.1:c.9477C>A | ENSP00000505508.1:p.Phe3159Leu | |
| ENST00000380152.7:c.9477C>A | ENSP00000369497.3:p.Phe3159Leu | |
| ENST00000470094.1:c.434C>A | ||
| ENST00000544455.5:c.9477C>A | ENSP00000439902.1:p.Phe3159Leu | |
| NM_000059.3:c.9477C>A , LRG_293t1:c.9477C>A | NP_000050.2:p.Phe3159Leu | |
| XM_011535203.1:c.9477C>A | XP_011533505.1:p.Phe3159Leu | |
| XM_011535204.1:c.9381C>A | XP_011533506.1:p.Phe3127Leu | |
| NM_000059.4:c.9477C>A MANE Select | NP_000050.3:p.Phe3159Leu |