Linked Data
ClinVar Variation Id:
241106
dbSNP Id:
rs186745328
ExAC:
16:78466409 G / T
gnomAD v2:
16-78466409-G-T
gnomAD v3:
16-78432512-G-T
gnomAD v4:
16-78432512-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.78432512G>T , CM000678.2:g.78432512G>T | GRCh38 |
| NC_000016.9:g.78466409G>T , CM000678.1:g.78466409G>T | GRCh37 |
| NC_000016.8:g.77023910G>T | NCBI36 |
| NG_011698.1:g.337859G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000627394.3:c.816G>T | ENSP00000485925.2:p.Leu272Phe | |
| ENST00000683929.1:c.816G>T | ENSP00000507689.1:p.Leu272Phe | |
| ENST00000684632.1:n.1195G>T | ||
| ENST00000566780.6:c.816G>T MANE Select | ENSP00000457230.1:p.Leu272Phe | |
| ENST00000402655.6:c.409+317358G>T | ENSP00000384238.2:n.409+317358G>T | |
| ENST00000406884.6:c.516+268223G>T | ENSP00000384495.2:n.516+268223G>T | |
| ENST00000408984.7:c.816G>T | ENSP00000386161.3:p.Leu272Phe | |
| ENST00000539474.6:c.409+317358G>T | ENSP00000445210.2:n.409+317358G>T | |
| ENST00000562639.5:n.504G>T | ||
| ENST00000566780.5:c.816G>T | ENSP00000457230.1:p.Leu272Phe | |
| ENST00000569332.5:c.*613G>T | ENSP00000454788.1:n.*613G>T | |
| ENST00000620008.1:c.210G>T | ENSP00000482648.1:p.Leu70Phe | |
| NM_001291997.1:c.477G>T | NP_001278926.1:p.Leu159Phe | |
| NM_016373.3:c.816G>T | NP_057457.1:p.Leu272Phe | |
| XM_006721195.2:c.816G>T | XP_006721258.1:p.Leu272Phe | |
| XM_011523100.1:c.816G>T | XP_011521402.1:p.Leu272Phe | |
| XM_011523101.1:c.816G>T | XP_011521403.1:p.Leu272Phe | |
| XM_011523102.1:c.816G>T | XP_011521404.1:p.Leu272Phe | |
| XM_011523103.1:c.816G>T | XP_011521405.1:p.Leu272Phe | |
| XM_011523104.1:c.816G>T | XP_011521406.1:p.Leu272Phe | |
| XR_933765.1:n.3419-1699C>A | ||
| XM_011523101.3:c.816G>T | XP_011521403.1:p.Leu272Phe | |
| XM_011523103.3:c.816G>T | XP_011521405.1:p.Leu272Phe | |
| XM_011523104.3:c.816G>T | XP_011521406.1:p.Leu272Phe | |
| NM_016373.4:c.816G>T MANE Select | NP_057457.1:p.Leu272Phe | |
| NM_001291997.2:c.477G>T | NP_001278926.1:p.Leu159Phe |