Linked Data
ClinVar Variation Id:
313220
dbSNP Id:
rs139536545
ExAC:
14:45654531 C / T
gnomAD v2:
14-45654531-C-T
gnomAD v3:
14-45185328-C-T
gnomAD v4:
14-45185328-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.45185328C>T , CM000676.2:g.45185328C>T | GRCh38 |
| NC_000014.8:g.45654531C>T , CM000676.1:g.45654531C>T | GRCh37 |
| NC_000014.7:g.44724281C>T | NCBI36 |
| NG_007417.1:g.54396C>T , LRG_502:g.54396C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000554809.6:c.2839C>T | ENSP00000450632.2:p.Leu947Phe | |
| ENST00000555484.2:c.405C>T | ||
| ENST00000556250.6:c.4420C>T | ENSP00000452033.2:p.Leu1474Phe | |
| ENST00000557110.2:c.405C>T | ||
| ENST00000696642.1:c.*3438C>T | ENSP00000512775.1:n.*3438C>T | |
| ENST00000696644.1:n.363C>T | ||
| ENST00000696645.1:n.517C>T | ||
| ENST00000696647.1:c.4627C>T | ENSP00000512778.1:p.Leu1543Phe | |
| ENST00000696648.1:c.*2652C>T | ENSP00000512779.1:n.*2652C>T | |
| ENST00000696649.1:c.4471C>T | ENSP00000512780.1:p.Leu1491Phe | |
| ENST00000696650.1:n.4575C>T | ||
| ENST00000696659.1:c.2625C>T | ||
| ENST00000696663.1:c.3558C>T | ||
| ENST00000696664.1:c.3459C>T | ||
| ENST00000696665.1:c.405C>T | ||
| ENST00000696675.1:c.*383C>T | ENSP00000512799.1:n.*383C>T | |
| ENST00000696683.1:c.3444C>T | ||
| ENST00000696684.1:c.3444C>T | ||
| ENST00000696685.1:c.3444C>T | ||
| ENST00000696686.1:n.1364C>T | ||
| ENST00000267430.10:c.4627C>T MANE Select | ENSP00000267430.5:p.Leu1543Phe | |
| ENST00000267430.9:c.4627C>T | ENSP00000267430.5:p.Leu1543Phe | |
| ENST00000542564.6:c.4549C>T | ENSP00000442493.2:p.Leu1517Phe | |
| ENST00000554809.5:c.1424C>T | ||
| ENST00000555013.1:n.460C>T | ||
| ENST00000556250.5:c.3175C>T | ENSP00000452033.1:p.Leu1059Phe | |
| NM_001308133.1:c.4549C>T | NP_001295062.1:p.Leu1517Phe | |
| NM_020937.2:c.4627C>T , LRG_502t1:c.4627C>T | NP_065988.1:p.Leu1543Phe | |
| NM_020937.3:c.4627C>T | NP_065988.1:p.Leu1543Phe | |
| XM_011537034.1:c.4642C>T | XP_011535336.1:p.Leu1548Phe | |
| XM_011537035.1:c.4564C>T | XP_011535337.1:p.Leu1522Phe | |
| XM_011537036.1:c.4642C>T | XP_011535338.1:p.Leu1548Phe | |
| XM_011537037.1:c.2656C>T | XP_011535339.1:p.Leu886Phe | |
| XM_011537034.2:c.4642C>T | XP_011535336.1:p.Leu1548Phe | |
| XM_011537035.3:c.4564C>T | XP_011535337.1:p.Leu1522Phe | |
| XM_011537037.3:c.2656C>T | XP_011535339.1:p.Leu886Phe | |
| XM_017021523.1:c.4642C>T | XP_016877012.1:p.Leu1548Phe | |
| XM_017021524.2:c.3679C>T | XP_016877013.1:p.Leu1227Phe | |
| XM_017021525.2:c.3457C>T | XP_016877014.1:p.Leu1153Phe | |
| XM_017021526.2:c.3457C>T | XP_016877015.1:p.Leu1153Phe | |
| XM_017021527.1:c.3442C>T | XP_016877016.1:p.Leu1148Phe | |
| XR_001750470.1:n.4734C>T | ||
| XR_001750471.2:n.4719C>T | ||
| XR_001750472.1:n.4771C>T | ||
| NM_020937.4:c.4627C>T MANE Select | NP_065988.1:p.Leu1543Phe | |
| NM_001308133.2:c.4549C>T | NP_001295062.1:p.Leu1517Phe |