Linked Data
ClinVar Variation Id:
159020
dbSNP Id:
rs146284370
ExAC:
16:15790642 C / T
gnomAD v2:
16-15790642-C-T
gnomAD v3:
16-15696785-C-T
gnomAD v4:
16-15696785-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.15696785C>T , CM000678.2:g.15696785C>T | GRCh38 |
| NC_000016.9:g.15790642C>T , CM000678.1:g.15790642C>T | GRCh37 |
| NC_000016.8:g.15698143C>T | NCBI36 |
| NG_021210.1:g.58519C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396354.6:c.872C>T MANE Select | ENSP00000379642.1:p.Ser291Phe | |
| ENST00000572756.6:c.795+2529C>T | ENSP00000460436.2:n.795+2529C>T | |
| ENST00000577101.6:c.955C>T | ENSP00000461729.2:p.Leu319= | |
| ENST00000674538.1:c.795+2529C>T | ENSP00000501547.1:n.795+2529C>T | |
| ENST00000674554.1:c.872C>T | ENSP00000502635.1:p.Ser291Phe | |
| ENST00000674581.1:c.780C>T | ENSP00000502100.1:p.Leu260= | |
| ENST00000674588.1:c.795+2529C>T | ENSP00000502802.1:n.795+2529C>T | |
| ENST00000674888.1:c.872C>T | ENSP00000501936.1:p.Ser291Phe | |
| ENST00000674900.1:c.*273C>T | ENSP00000502662.1:n.*273C>T | |
| ENST00000674995.1:c.795+2529C>T | ENSP00000502414.1:n.795+2529C>T | |
| ENST00000675171.1:c.*624C>T | ENSP00000501812.1:n.*624C>T | |
| ENST00000675926.1:c.872C>T | ENSP00000502354.1:p.Ser291Phe | |
| ENST00000675951.1:c.872C>T | ENSP00000502160.1:p.Ser291Phe | |
| ENST00000342673.9:c.872C>T | ENSP00000345892.5:p.Ser291Phe | |
| ENST00000396354.5:c.872C>T | ENSP00000379642.1:p.Ser291Phe | |
| ENST00000396355.5:c.872C>T | ENSP00000379643.1:p.Ser291Phe | |
| ENST00000572967.1:c.251C>T | ENSP00000459918.1:p.Ser84Phe | |
| ENST00000573694.5:c.253+2529C>T | ||
| ENST00000574109.5:c.434C>T | ENSP00000459875.1:p.Ser145Phe | |
| ENST00000576502.5:c.293C>T | ENSP00000461748.1:p.Ser98Phe | |
| NM_001143979.1:c.872C>T | NP_001137451.1:p.Ser291Phe | |
| NM_017668.2:c.872C>T | NP_060138.1:p.Ser291Phe | |
| XM_005255396.3:c.872C>T | XP_005255453.1:p.Ser291Phe | |
| XM_006720897.2:c.968C>T | XP_006720960.1:p.Ser323Phe | |
| XM_006720898.2:c.968C>T | XP_006720961.1:p.Ser323Phe | |
| XM_006720899.2:c.968C>T | XP_006720962.1:p.Ser323Phe | |
| XM_006720900.2:c.872C>T | XP_006720963.1:p.Ser291Phe | |
| XM_011522549.1:c.965C>T | XP_011520851.1:p.Ser322Phe | |
| XM_011522550.1:c.1047C>T | XP_011520852.1:p.Leu349= | |
| XM_011522551.1:c.1047C>T | XP_011520853.1:p.Leu349= | |
| XM_011522552.1:c.891+2529C>T | XP_011520854.1:n.891+2529C>T | |
| XM_011522553.1:c.872C>T | XP_011520855.1:p.Ser291Phe | |
| XM_011522554.1:c.891+2529C>T | XP_011520856.1:n.891+2529C>T | |
| XM_005255396.5:c.872C>T | XP_005255453.1:p.Ser291Phe | |
| XM_006720897.4:c.968C>T | XP_006720960.1:p.Ser323Phe | |
| XM_006720900.4:c.872C>T | XP_006720963.1:p.Ser291Phe | |
| XM_011522553.2:c.872C>T | XP_011520855.1:p.Ser291Phe | |
| XM_017023349.2:c.872C>T | XP_016878838.1:p.Ser291Phe | |
| XM_017023350.1:c.869C>T | XP_016878839.1:p.Ser290Phe | |
| XM_017023351.2:c.951C>T | XP_016878840.1:p.Leu317= | |
| XM_017023352.2:c.951C>T | XP_016878841.1:p.Leu317= | |
| XM_017023353.2:c.872C>T | XP_016878842.1:p.Ser291Phe | |
| XM_017023354.2:c.795+2529C>T | XP_016878843.1:n.795+2529C>T | |
| XM_017023355.2:c.795+2529C>T | XP_016878844.1:n.795+2529C>T | |
| XM_017023356.2:c.872C>T | XP_016878845.1:p.Ser291Phe | |
| XM_017023357.2:c.476C>T | XP_016878846.1:p.Ser159Phe | |
| NM_017668.3:c.872C>T MANE Select | NP_060138.1:p.Ser291Phe | |
| NM_001143979.2:c.872C>T | NP_001137451.1:p.Ser291Phe |