Linked Data
ClinVar Variation Id:
990648
ClinVar RCV Id:
RCV001278710
dbSNP Id:
rs1828702034
gnomAD v3:
9-108899878-T-G
gnomAD v4:
9-108899878-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.108899878T>G , CM000671.2:g.108899878T>G | GRCh38 |
| NC_000009.11:g.111662158T>G , CM000671.1:g.111662158T>G | GRCh37 |
| NC_000009.10:g.110701979T>G | NCBI36 |
| NG_008788.1:g.39451A>C , LRG_251:g.39451A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374647.10:c.2148A>C MANE Select | ENSP00000363779.5:p.Leu716Phe | |
| ENST00000495759.6:c.*758A>C | ENSP00000433514.2:n.*758A>C | |
| ENST00000674535.1:c.2148A>C | ENSP00000502142.1:p.Leu716Phe | |
| ENST00000674704.1:n.3955A>C | ||
| ENST00000674836.1:n.2453A>C | ||
| ENST00000674890.1:c.2148A>C | ENSP00000501870.1:p.Leu716Phe | |
| ENST00000674938.1:c.1806A>C | ENSP00000502427.1:p.Leu602Phe | |
| ENST00000674948.1:c.1806A>C | ENSP00000501602.1:p.Leu602Phe | |
| ENST00000675052.1:c.2148A>C | ENSP00000502664.1:p.Leu716Phe | |
| ENST00000675078.1:c.2148A>C | ENSP00000501549.1:p.Leu716Phe | |
| ENST00000675215.1:c.*1372A>C | ENSP00000502558.1:n.*1372A>C | |
| ENST00000675233.1:n.3975A>C | ||
| ENST00000675321.1:c.2148A>C | ENSP00000502751.1:p.Leu716Phe | |
| ENST00000675325.1:n.3944A>C | ||
| ENST00000675335.1:c.2179A>C | ENSP00000502182.1:n.2179A>C | |
| ENST00000675400.1:n.3821A>C | ||
| ENST00000675406.1:c.2148A>C | ENSP00000501893.1:p.Leu716Phe | |
| ENST00000675458.1:c.2241A>C | ENSP00000501754.1:n.2241A>C | |
| ENST00000675507.1:n.3944A>C | ||
| ENST00000675535.1:c.2148A>C | ENSP00000501667.1:p.Leu716Phe | |
| ENST00000675566.1:n.3944A>C | ||
| ENST00000675602.1:n.5196A>C | ||
| ENST00000675647.1:n.2453A>C | ||
| ENST00000675711.1:c.2148A>C | ENSP00000502485.1:p.Leu716Phe | |
| ENST00000675727.1:c.2148A>C | ENSP00000501722.1:p.Leu716Phe | |
| ENST00000675748.1:n.3782A>C | ||
| ENST00000675765.1:c.2148A>C | ENSP00000502640.1:p.Leu716Phe | |
| ENST00000675825.1:c.2148A>C | ENSP00000502632.1:p.Leu716Phe | |
| ENST00000675877.1:n.2453A>C | ||
| ENST00000675893.1:c.*3217A>C | ENSP00000502001.1:n.*3217A>C | |
| ENST00000675943.1:n.5763A>C | ||
| ENST00000675979.1:c.*1391A>C | ENSP00000502208.1:n.*1391A>C | |
| ENST00000676044.1:c.2148A>C | ENSP00000502378.1:p.Leu716Phe | |
| ENST00000676086.1:n.3933A>C | ||
| ENST00000676121.1:n.3976A>C | ||
| ENST00000676237.1:c.2049A>C | ENSP00000501828.1:p.Leu683Phe | |
| ENST00000676416.1:c.1806A>C | ENSP00000501660.1:p.Leu602Phe | |
| ENST00000676424.1:n.3944A>C | ||
| ENST00000676429.1:n.6617A>C | ||
| ENST00000374647.9:c.2148A>C | ENSP00000363779.5:p.Leu716Phe | |
| ENST00000537196.1:c.1101A>C | ENSP00000439367.1:p.Leu367Phe | |
| NM_003640.3:c.2148A>C , LRG_251t1:c.2148A>C | NP_003631.2:p.Leu716Phe | |
| XM_005252285.2:c.1806A>C | XP_005252342.1:p.Leu602Phe | |
| XM_011519136.1:c.2148A>C | XP_011517438.1:p.Leu716Phe | |
| XM_011519137.1:c.1806A>C | XP_011517439.1:p.Leu602Phe | |
| XR_929859.1:n.2464A>C | ||
| NM_001318360.1:c.1806A>C | NP_001305289.1:p.Leu602Phe | |
| NM_001330749.1:c.1101A>C | NP_001317678.1:p.Leu367Phe | |
| NM_003640.4:c.2148A>C | NP_003631.2:p.Leu716Phe | |
| XM_011519136.2:c.2148A>C | XP_011517438.1:p.Leu716Phe | |
| XR_929859.3:n.2475A>C | ||
| NM_003640.5:c.2148A>C MANE Select | NP_003631.2:p.Leu716Phe | |
| NM_001318360.2:c.1806A>C | NP_001305289.1:p.Leu602Phe | |
| NM_001330749.2:c.1101A>C | NP_001317678.1:p.Leu367Phe |