Linked Data
ClinVar Variation Id:
54389
dbSNP Id:
rs80356956
gnomAD v2:
17-41258496-T-A
gnomAD v4:
17-43106479-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43106479T>A , CM000679.2:g.43106479T>A | GRCh38 |
| NC_000017.10:g.41258496T>A , CM000679.1:g.41258496T>A | GRCh37 |
| NC_000017.9:g.38512022T>A | NCBI36 |
| NG_005905.2:g.111505A>T , LRG_292:g.111505A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354071.8:n.253A>T | ||
| ENST00000461574.2:c.189A>T | ENSP00000417241.2:p.Leu63Phe | |
| ENST00000470026.6:c.189A>T | ENSP00000419274.2:p.Leu63Phe | |
| ENST00000473961.6:c.189A>T | ENSP00000420201.2:p.Leu63Phe | |
| ENST00000476777.6:c.189A>T | ENSP00000417554.2:p.Leu63Phe | |
| ENST00000477152.6:c.135-1523A>T | ENSP00000419988.2:n.135-1523A>T | |
| ENST00000478531.6:c.189A>T | ENSP00000420412.2:p.Leu63Phe | |
| ENST00000489037.2:c.135-1523A>T | ENSP00000420781.2:n.135-1523A>T | |
| ENST00000493919.6:c.48A>T | ENSP00000418819.2:p.Leu16Phe | |
| ENST00000494123.6:c.189A>T | ENSP00000419103.2:p.Leu63Phe | |
| ENST00000497488.2:c.-218-11619A>T | ENSP00000418986.2:n.-218-11619A>T | |
| ENST00000618469.2:c.189A>T | ENSP00000478114.2:p.Leu63Phe | |
| ENST00000634433.2:c.189A>T | ENSP00000489431.2:p.Leu63Phe | |
| ENST00000644379.2:c.189A>T | ENSP00000496570.2:p.Leu63Phe | |
| ENST00000644555.2:c.48A>T | ENSP00000494614.2:p.Leu16Phe | |
| ENST00000652672.2:c.48A>T | ENSP00000498906.2:p.Leu16Phe | |
| ENST00000484087.6:c.189A>T | ENSP00000419481.2:p.Leu63Phe | |
| ENST00000700182.1:c.135-1523A>T | ENSP00000514849.1:n.135-1523A>T | |
| ENST00000700183.1:c.*125A>T | ENSP00000514850.1:n.*125A>T | |
| ENST00000700184.1:n.432A>T | ||
| ENST00000357654.9:c.189A>T MANE Select | ENSP00000350283.3:p.Leu63Phe | |
| ENST00000471181.7:c.189A>T | ENSP00000418960.2:p.Leu63Phe | |
| ENST00000642945.1:c.*63A>T | ENSP00000495897.1:n.*63A>T | |
| ENST00000644555.1:c.48A>T | ENSP00000494614.1:p.Leu16Phe | |
| ENST00000652672.1:c.48A>T | ENSP00000498906.1:p.Leu16Phe | |
| ENST00000352993.7:c.189A>T | ENSP00000312236.5:p.Leu63Phe | |
| ENST00000354071.7:c.189A>T | ENSP00000326002.7:p.Leu63Phe | |
| ENST00000357654.7:c.189A>T | ENSP00000350283.3:p.Leu63Phe | |
| ENST00000461221.5:c.189A>T | ENSP00000418548.1:p.Leu63Phe | |
| ENST00000461798.5:c.189A>T | ENSP00000417988.1:p.Leu63Phe | |
| ENST00000468300.5:c.189A>T | ENSP00000417148.1:p.Leu63Phe | |
| ENST00000470026.5:c.189A>T | ENSP00000419274.1:p.Leu63Phe | |
| ENST00000471181.6:c.189A>T | ENSP00000418960.2:p.Leu63Phe | |
| ENST00000476777.5:c.189A>T | ENSP00000417554.1:p.Leu63Phe | |
| ENST00000477152.5:c.135-1523A>T | ENSP00000419988.1:n.135-1523A>T | |
| ENST00000478531.5:c.189A>T | ENSP00000420412.1:p.Leu63Phe | |
| ENST00000489037.1:c.135-1523A>T | ENSP00000420781.1:n.135-1523A>T | |
| ENST00000491747.6:c.189A>T | ENSP00000420705.2:p.Leu63Phe | |
| ENST00000492859.5:c.*125A>T | ENSP00000420253.1:n.*125A>T | |
| ENST00000493795.5:c.48A>T | ENSP00000418775.1:p.Leu16Phe | |
| ENST00000493919.5:c.48A>T | ENSP00000418819.1:p.Leu16Phe | |
| ENST00000494123.5:c.189A>T | ENSP00000419103.1:p.Leu63Phe | |
| ENST00000497488.1:c.-218-11619A>T | ENSP00000418986.1:n.-218-11619A>T | |
| ENST00000586385.5:c.4+18703A>T | ENSP00000465818.1:n.4+18703A>T | |
| ENST00000591534.5:c.-44+18792A>T | ENSP00000467329.1:n.-44+18792A>T | |
| ENST00000591849.5:c.-99+18792A>T | ENSP00000465347.1:n.-99+18792A>T | |
| ENST00000634433.1:c.189A>T | ENSP00000489431.1:p.Leu63Phe | |
| NM_007294.3:c.189A>T , LRG_292t1:c.189A>T | NP_009225.1:p.Leu63Phe | |
| NM_007297.3:c.48A>T | NP_009228.2:p.Leu16Phe | |
| NM_007298.3:c.189A>T | NP_009229.2:p.Leu63Phe | |
| NM_007299.3:c.189A>T | NP_009230.2:p.Leu63Phe | |
| NM_007300.3:c.189A>T | NP_009231.2:p.Leu63Phe | |
| NR_027676.1:n.350A>T | ||
| NM_007294.4:c.189A>T MANE Select | NP_009225.1:p.Leu63Phe | |
| NM_007297.4:c.48A>T | NP_009228.2:p.Leu16Phe | |
| NM_007299.4:c.189A>T | NP_009230.2:p.Leu63Phe | |
| NM_007300.4:c.189A>T | NP_009231.2:p.Leu63Phe | |
| NR_027676.2:n.391A>T |