Linked Data
ClinVar Variation Id:
906327
dbSNP Id:
rs201430870
ExAC:
5:52856569 C / T
gnomAD v2:
5-52856569-C-T
gnomAD v3:
5-53560739-C-T
gnomAD v4:
5-53560739-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.53560739C>T , CM000667.2:g.53560739C>T | GRCh38 |
| NC_000005.9:g.52856569C>T , CM000667.1:g.52856569C>T | GRCh37 |
| NC_000005.8:g.52892326C>T | NCBI36 |
| NG_008200.1:g.5105C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296684.10:c.77C>T MANE Select | ENSP00000296684.5:p.Ser26Phe | |
| ENST00000296684.9:c.77C>T | ENSP00000296684.5:p.Ser26Phe | |
| ENST00000502423.5:c.77C>T | ENSP00000422177.1:p.Ser26Phe | |
| ENST00000506765.1:c.65C>T | ENSP00000424570.1:p.Ser22Phe | |
| ENST00000506974.5:c.77C>T | ENSP00000425967.1:p.Ser26Phe | |
| ENST00000507026.5:c.77C>T | ENSP00000424993.1:p.Ser26Phe | |
| NM_002495.2:c.77C>T | NP_002486.1:p.Ser26Phe | |
| XM_005248525.3:c.77C>T | XP_005248582.1:p.Ser26Phe | |
| XM_011543414.1:c.77C>T | XP_011541716.1:p.Ser26Phe | |
| NM_001318051.1:c.77C>T | NP_001304980.1:p.Ser26Phe | |
| NM_002495.3:c.77C>T | NP_002486.1:p.Ser26Phe | |
| NR_134473.1:n.107C>T | ||
| NR_134474.1:n.107C>T | ||
| NR_134475.1:n.107C>T | ||
| XM_017009491.1:c.77C>T | XP_016864980.1:p.Ser26Phe | |
| NM_002495.4:c.77C>T MANE Select | NP_002486.1:p.Ser26Phe | |
| NM_001318051.2:c.77C>T | NP_001304980.1:p.Ser26Phe | |
| NR_134473.2:n.101C>T | ||
| NR_134474.2:n.101C>T | ||
| NR_134475.2:n.101C>T |