Linked Data
ClinVar Variation Id:
213997
dbSNP Id:
rs146453758
ExAC:
3:128615363 C / T
gnomAD v2:
3-128615363-C-T
gnomAD v3:
3-128896520-C-T
gnomAD v4:
3-128896520-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128896520C>T , CM000665.2:g.128896520C>T | GRCh38 |
| NC_000003.11:g.128615363C>T , CM000665.1:g.128615363C>T | GRCh37 |
| NC_000003.10:g.130098053C>T | NCBI36 |
| NG_017064.1:g.22031C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000308982.12:c.538C>T MANE Select | ENSP00000312618.7:p.Leu180Phe | |
| ENST00000511325.2:n.616C>T | ||
| ENST00000679399.1:c.*432C>T | ENSP00000505434.1:n.*432C>T | |
| ENST00000679431.1:c.*410C>T | ENSP00000506440.1:n.*410C>T | |
| ENST00000679613.1:c.538C>T | ENSP00000504971.1:p.Leu180Phe | |
| ENST00000679715.1:c.169C>T | ENSP00000506228.1:p.Leu57Phe | |
| ENST00000679824.1:c.*1844C>T | ENSP00000505516.1:n.*1844C>T | |
| ENST00000679990.1:n.773C>T | ||
| ENST00000680636.1:c.538C>T | ENSP00000504886.1:p.Leu180Phe | |
| ENST00000680744.1:c.538C>T | ENSP00000505243.1:p.Leu180Phe | |
| ENST00000680764.1:c.*1938C>T | ENSP00000505126.1:n.*1938C>T | |
| ENST00000681319.1:n.616C>T | ||
| ENST00000681367.1:c.538C>T | ENSP00000505309.1:p.Leu180Phe | |
| ENST00000681552.1:c.538C>T | ENSP00000505699.1:p.Leu180Phe | |
| ENST00000681583.1:c.538C>T | ENSP00000506340.1:p.Leu180Phe | |
| ENST00000681585.1:c.538C>T | ENSP00000506316.1:p.Leu180Phe | |
| ENST00000681589.1:n.752C>T | ||
| ENST00000681784.1:n.616C>T | ||
| ENST00000681886.1:c.538C>T | ENSP00000506500.1:p.Leu180Phe | |
| ENST00000308982.11:c.538C>T | ENSP00000312618.7:p.Leu180Phe | |
| ENST00000505192.5:c.*234C>T | ENSP00000426277.1:n.*234C>T | |
| ENST00000505867.5:c.*338C>T | ENSP00000425346.1:n.*338C>T | |
| ENST00000511227.5:c.*432C>T | ENSP00000425226.1:n.*432C>T | |
| ENST00000512801.5:c.*234C>T | ENSP00000427283.1:n.*234C>T | |
| ENST00000514643.5:c.*234C>T | ENSP00000422020.1:n.*234C>T | |
| NM_014049.4:c.538C>T | NP_054768.2:p.Leu180Phe | |
| NR_033426.1:n.916C>T | ||
| XM_011512742.1:c.169C>T | XP_011511044.1:p.Leu57Phe | |
| XR_427367.1:n.610C>T | ||
| XM_024453484.1:c.169C>T | XP_024309252.1:p.Leu57Phe | |
| XM_024453485.1:c.169C>T | XP_024309253.1:p.Leu57Phe | |
| XR_427367.3:n.610C>T | ||
| NM_014049.5:c.538C>T MANE Select | NP_054768.2:p.Leu180Phe | |
| NR_033426.2:n.786C>T |