Linked Data
ClinVar Variation Id:
479142
dbSNP Id:
rs13389423
ExAC:
2:215593551 G / A
gnomAD v2:
2-215593551-G-A
gnomAD v4:
2-214728827-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214728827G>A , CM000664.2:g.214728827G>A | GRCh38 |
| NC_000002.11:g.215593551G>A , CM000664.1:g.215593551G>A | GRCh37 |
| NC_000002.10:g.215301796G>A | NCBI36 |
| NG_012047.2:g.85878C>T | |
| NG_012047.3:g.85885C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260947.9:c.2183C>T MANE Select | ENSP00000260947.4:p.Ser728Phe | |
| ENST00000421162.2:c.830C>T | ENSP00000392245.2:p.Ser277Phe | |
| ENST00000613192.2:c.*246C>T | ENSP00000483275.2:n.*246C>T | |
| ENST00000613374.5:c.773C>T | ENSP00000484464.1:p.Ser258Phe | |
| ENST00000613706.5:c.1775C>T | ENSP00000484976.2:p.Ser592Phe | |
| ENST00000617164.5:c.2126C>T | ENSP00000480470.1:p.Ser709Phe | |
| ENST00000619009.5:c.644C>T | ENSP00000482293.1:p.Ser215Phe | |
| ENST00000650978.1:c.3558C>T | ||
| ENST00000260947.8:c.2183C>T | ENSP00000260947.4:p.Ser728Phe | |
| ENST00000432456.5:c.326C>T | ||
| ENST00000455743.5:c.*1803C>T | ENSP00000412186.1:n.*1803C>T | |
| ENST00000471590.5:n.518C>T | ||
| ENST00000613192.1:c.353C>T | ENSP00000483275.1:p.Ser118Phe | |
| ENST00000613374.4:c.773C>T | ENSP00000484464.1:p.Ser258Phe | |
| ENST00000613706.4:c.830C>T | ENSP00000484976.1:p.Ser277Phe | |
| ENST00000617164.4:c.2126C>T | ENSP00000480470.1:p.Ser709Phe | |
| ENST00000619009.4:c.644C>T | ENSP00000482293.1:p.Ser215Phe | |
| ENST00000620057.4:c.*849C>T | ENSP00000481988.1:n.*849C>T | |
| NM_000465.3:c.2183C>T | NP_000456.2:p.Ser728Phe | |
| NM_001282543.1:c.2126C>T | NP_001269472.1:p.Ser709Phe | |
| NM_001282545.1:c.830C>T | NP_001269474.1:p.Ser277Phe | |
| NM_001282548.1:c.773C>T | NP_001269477.1:p.Ser258Phe | |
| NM_001282549.1:c.644C>T | NP_001269478.1:p.Ser215Phe | |
| NR_104212.1:n.2176C>T | ||
| NR_104215.1:n.2119C>T | ||
| NR_104216.1:n.1375C>T | ||
| XM_011511567.1:c.2129C>T | XP_011509869.1:p.Ser710Phe | |
| XM_017004613.1:c.2282C>T | XP_016860102.1:p.Ser761Phe | |
| XR_002959322.1:n.2549C>T | ||
| NM_000465.4:c.2183C>T MANE Select | NP_000456.2:p.Ser728Phe | |
| NM_001282543.2:c.2126C>T | NP_001269472.1:p.Ser709Phe | |
| NM_001282545.2:c.830C>T | NP_001269474.1:p.Ser277Phe | |
| NM_001282548.2:c.773C>T | NP_001269477.1:p.Ser258Phe | |
| NM_001282549.2:c.644C>T | NP_001269478.1:p.Ser215Phe | |
| NR_104212.2:n.2148C>T | ||
| NR_104215.2:n.2091C>T | ||
| NR_104216.2:n.1347C>T |