Linked Data
ClinVar Variation Id:
2053369
ClinVar RCV Id:
RCV002922450
dbSNP Id:
rs775668128
ExAC:
9:111679853 G / A
gnomAD v2:
9-111679853-G-A
gnomAD v4:
9-108917573-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.108917573G>A , CM000671.2:g.108917573G>A | GRCh38 |
| NC_000009.11:g.111679853G>A , CM000671.1:g.111679853G>A | GRCh37 |
| NC_000009.10:g.110719674G>A | NCBI36 |
| NG_008788.1:g.21756C>T , LRG_251:g.21756C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374647.10:c.838C>T MANE Select | ENSP00000363779.5:p.Leu280Phe | |
| ENST00000495759.6:c.552+5269C>T | ENSP00000433514.2:n.552+5269C>T | |
| ENST00000674535.1:c.838C>T | ENSP00000502142.1:p.Leu280Phe | |
| ENST00000674704.1:n.2645C>T | ||
| ENST00000674836.1:n.1143C>T | ||
| ENST00000674890.1:c.838C>T | ENSP00000501870.1:p.Leu280Phe | |
| ENST00000674938.1:c.496C>T | ENSP00000502427.1:p.Leu166Phe | |
| ENST00000674948.1:c.496C>T | ENSP00000501602.1:p.Leu166Phe | |
| ENST00000675052.1:c.838C>T | ENSP00000502664.1:p.Leu280Phe | |
| ENST00000675078.1:c.838C>T | ENSP00000501549.1:p.Leu280Phe | |
| ENST00000675215.1:c.*62C>T | ENSP00000502558.1:n.*62C>T | |
| ENST00000675233.1:n.2634C>T | ||
| ENST00000675321.1:c.838C>T | ENSP00000502751.1:p.Leu280Phe | |
| ENST00000675325.1:n.2634C>T | ||
| ENST00000675335.1:c.838C>T | ENSP00000502182.1:p.Leu280Phe | |
| ENST00000675400.1:n.2511C>T | ||
| ENST00000675406.1:c.838C>T | ENSP00000501893.1:p.Leu280Phe | |
| ENST00000675458.1:c.931C>T | ENSP00000501754.1:n.931C>T | |
| ENST00000675507.1:n.2634C>T | ||
| ENST00000675535.1:c.838C>T | ENSP00000501667.1:p.Leu280Phe | |
| ENST00000675566.1:n.2634C>T | ||
| ENST00000675602.1:n.2637C>T | ||
| ENST00000675647.1:n.1143C>T | ||
| ENST00000675711.1:c.838C>T | ENSP00000502485.1:p.Leu280Phe | |
| ENST00000675727.1:c.838C>T | ENSP00000501722.1:p.Leu280Phe | |
| ENST00000675748.1:n.2472C>T | ||
| ENST00000675765.1:c.838C>T | ENSP00000502640.1:p.Leu280Phe | |
| ENST00000675825.1:c.838C>T | ENSP00000502632.1:p.Leu280Phe | |
| ENST00000675877.1:n.1143C>T | ||
| ENST00000675893.1:c.*1907C>T | ENSP00000502001.1:n.*1907C>T | |
| ENST00000675943.1:n.2634C>T | ||
| ENST00000675979.1:c.*81C>T | ENSP00000502208.1:n.*81C>T | |
| ENST00000676044.1:c.838C>T | ENSP00000502378.1:p.Leu280Phe | |
| ENST00000676086.1:n.2634C>T | ||
| ENST00000676121.1:n.2666C>T | ||
| ENST00000676237.1:c.739C>T | ENSP00000501828.1:p.Leu247Phe | |
| ENST00000676416.1:c.496C>T | ENSP00000501660.1:p.Leu166Phe | |
| ENST00000676424.1:n.2634C>T | ||
| ENST00000676429.1:n.5307C>T | ||
| ENST00000374647.9:c.838C>T | ENSP00000363779.5:p.Leu280Phe | |
| ENST00000537196.1:c.-210C>T | ENSP00000439367.1:n.-210C>T | |
| NM_003640.3:c.838C>T , LRG_251t1:c.838C>T | NP_003631.2:p.Leu280Phe | |
| XM_005252285.2:c.496C>T | XP_005252342.1:p.Leu166Phe | |
| XM_011519136.1:c.838C>T | XP_011517438.1:p.Leu280Phe | |
| XM_011519137.1:c.496C>T | XP_011517439.1:p.Leu166Phe | |
| XR_929859.1:n.1154C>T | ||
| NM_001318360.1:c.496C>T | NP_001305289.1:p.Leu166Phe | |
| NM_001330749.1:c.-210C>T | NP_001317678.1:n.-210C>T | |
| NM_003640.4:c.838C>T | NP_003631.2:p.Leu280Phe | |
| XM_011519136.2:c.838C>T | XP_011517438.1:p.Leu280Phe | |
| XR_929859.3:n.1165C>T | ||
| NM_003640.5:c.838C>T MANE Select | NP_003631.2:p.Leu280Phe | |
| NM_001318360.2:c.496C>T | NP_001305289.1:p.Leu166Phe | |
| NM_001330749.2:c.-210C>T | NP_001317678.1:n.-210C>T |