Linked Data
ClinVar Variation Id:
1473721
ClinVar RCV Id:
RCV002005336
dbSNP Id:
rs34677017
gnomAD v4:
2-214728762-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214728762C>A , CM000664.2:g.214728762C>A | GRCh38 |
| NC_000002.11:g.215593486C>A , CM000664.1:g.215593486C>A | GRCh37 |
| NC_000002.10:g.215301731C>A | NCBI36 |
| NG_012047.2:g.85943G>T | |
| NG_012047.3:g.85950G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.2248G>T MANE Select | ENSP00000260947.4:p.Val750Phe | |
| ENST00000421162.2:c.895G>T | ENSP00000392245.2:p.Val299Phe | |
| ENST00000613192.2:c.*311G>T | ENSP00000483275.2:n.*311G>T | |
| ENST00000613374.5:c.838G>T | ENSP00000484464.1:p.Val280Phe | |
| ENST00000613706.5:c.1840G>T | ENSP00000484976.2:p.Val614Phe | |
| ENST00000617164.5:c.2191G>T | ENSP00000480470.1:p.Val731Phe | |
| ENST00000619009.5:c.709G>T | ENSP00000482293.1:p.Val237Phe | |
| ENST00000650978.1:c.3623G>T | ||
| ENST00000260947.8:c.2248G>T | ENSP00000260947.4:p.Val750Phe | |
| ENST00000432456.5:c.391G>T | ||
| ENST00000455743.5:c.*1868G>T | ENSP00000412186.1:n.*1868G>T | |
| ENST00000471590.5:n.583G>T | ||
| ENST00000613192.1:c.418G>T | ENSP00000483275.1:p.Val140Phe | |
| ENST00000613374.4:c.838G>T | ENSP00000484464.1:p.Val280Phe | |
| ENST00000613706.4:c.895G>T | ENSP00000484976.1:p.Val299Phe | |
| ENST00000617164.4:c.2191G>T | ENSP00000480470.1:p.Val731Phe | |
| ENST00000619009.4:c.709G>T | ENSP00000482293.1:p.Val237Phe | |
| ENST00000620057.4:c.*914G>T | ENSP00000481988.1:n.*914G>T | |
| NM_000465.3:c.2248G>T | NP_000456.2:p.Val750Phe | |
| NM_001282543.1:c.2191G>T | NP_001269472.1:p.Val731Phe | |
| NM_001282545.1:c.895G>T | NP_001269474.1:p.Val299Phe | |
| NM_001282548.1:c.838G>T | NP_001269477.1:p.Val280Phe | |
| NM_001282549.1:c.709G>T | NP_001269478.1:p.Val237Phe | |
| NR_104212.1:n.2241G>T | ||
| NR_104215.1:n.2184G>T | ||
| NR_104216.1:n.1440G>T | ||
| XM_011511567.1:c.2194G>T | XP_011509869.1:p.Val732Phe | |
| XM_017004613.1:c.2347G>T | XP_016860102.1:p.Val783Phe | |
| XR_002959322.1:n.2614G>T | ||
| NM_000465.4:c.2248G>T MANE Select | NP_000456.2:p.Val750Phe | |
| NM_001282543.2:c.2191G>T | NP_001269472.1:p.Val731Phe | |
| NM_001282545.2:c.895G>T | NP_001269474.1:p.Val299Phe | |
| NM_001282548.2:c.838G>T | NP_001269477.1:p.Val280Phe | |
| NM_001282549.2:c.709G>T | NP_001269478.1:p.Val237Phe | |
| NR_104212.2:n.2213G>T | ||
| NR_104215.2:n.2156G>T | ||
| NR_104216.2:n.1412G>T |