Linked Data
ClinVar Variation Id:
94063
dbSNP Id:
rs138886378
ExAC:
15:31359348 G / A
gnomAD v2:
15-31359348-G-A
gnomAD v3:
15-31067145-G-A
gnomAD v4:
15-31067145-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.31067145G>A , CM000677.2:g.31067145G>A | GRCh38 |
| NC_000015.9:g.31359348G>A , CM000677.1:g.31359348G>A | GRCh37 |
| NC_000015.8:g.29146640G>A | NCBI36 |
| NG_016453.1:g.39577C>T | |
| NG_016453.2:g.99129C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711434.1:c.470C>T | ENSP00000518752.1:p.Ser157Phe | |
| ENST00000397795.7:c.470C>T | ENSP00000380897.2:p.Ser157Phe | |
| ENST00000558445.6:c.587C>T | ENSP00000452946.2:p.Ser196Phe | |
| ENST00000559177.6:c.544+734C>T | ENSP00000453477.2:n.544+734C>T | |
| ENST00000256552.11:c.536C>T MANE Select | ENSP00000256552.7:p.Ser179Phe | |
| ENST00000256552.10:c.536C>T | ENSP00000256552.6:p.Ser179Phe | |
| ENST00000397795.6:c.470C>T | ENSP00000380897.2:p.Ser157Phe | |
| ENST00000542188.5:c.587C>T | ENSP00000437849.1:p.Ser196Phe | |
| ENST00000558445.5:c.470C>T | ENSP00000452946.1:p.Ser157Phe | |
| ENST00000558768.5:c.257C>T | ENSP00000453119.2:p.Ser86Phe | |
| ENST00000559177.5:c.427+734C>T | ENSP00000453477.1:n.427+734C>T | |
| ENST00000560658.5:c.470C>T | ENSP00000454077.1:p.Ser157Phe | |
| ENST00000560801.5:c.257C>T | ENSP00000453644.2:p.Ser86Phe | |
| NM_001252020.1:c.587C>T | NP_001238949.1:p.Ser196Phe | |
| NM_001252024.1:c.536C>T | NP_001238953.1:p.Ser179Phe | |
| NM_002420.5:c.470C>T | NP_002411.3:p.Ser157Phe | |
| NM_001252024.2:c.536C>T MANE Select | NP_001238953.1:p.Ser179Phe | |
| NM_002420.6:c.470C>T | NP_002411.3:p.Ser157Phe | |
| NM_001252020.2:c.587C>T | NP_001238949.1:p.Ser196Phe |