Linked Data
ClinVar Variation Id:
479140
dbSNP Id:
rs778987552
ExAC:
2:215609872 C / T
gnomAD v2:
2-215609872-C-T
gnomAD v4:
2-214745148-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214745148C>T , CM000664.2:g.214745148C>T | GRCh38 |
| NC_000002.11:g.215609872C>T , CM000664.1:g.215609872C>T | GRCh37 |
| NC_000002.10:g.215318117C>T | NCBI36 |
| NG_012047.2:g.69557G>A | |
| NG_012047.3:g.69564G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.1822G>A MANE Select | ENSP00000260947.4:p.Val608Ile | |
| ENST00000421162.2:c.469G>A | ENSP00000392245.2:p.Val157Ile | |
| ENST00000613192.2:c.159-14640G>A | ENSP00000483275.2:n.159-14640G>A | |
| ENST00000613374.5:c.412G>A | ENSP00000484464.1:p.Val138Ile | |
| ENST00000613706.5:c.1414G>A | ENSP00000484976.2:p.Val472Ile | |
| ENST00000617164.5:c.1765G>A | ENSP00000480470.1:p.Val589Ile | |
| ENST00000619009.5:c.365-14640G>A | ENSP00000482293.1:n.365-14640G>A | |
| ENST00000650978.1:c.3197G>A | ||
| ENST00000260947.8:c.1822G>A | ENSP00000260947.4:p.Val608Ile | |
| ENST00000421162.1:c.469G>A | ENSP00000392245.1:p.Val157Ile | |
| ENST00000455743.5:c.*1442G>A | ENSP00000412186.1:n.*1442G>A | |
| ENST00000613192.1:c.74-14640G>A | ENSP00000483275.1:n.74-14640G>A | |
| ENST00000613374.4:c.412G>A | ENSP00000484464.1:p.Val138Ile | |
| ENST00000613706.4:c.469G>A | ENSP00000484976.1:p.Val157Ile | |
| ENST00000617164.4:c.1765G>A | ENSP00000480470.1:p.Val589Ile | |
| ENST00000619009.4:c.365-14640G>A | ENSP00000482293.1:n.365-14640G>A | |
| ENST00000620057.4:c.*488G>A | ENSP00000481988.1:n.*488G>A | |
| NM_000465.3:c.1822G>A | NP_000456.2:p.Val608Ile | |
| NM_001282543.1:c.1765G>A | NP_001269472.1:p.Val589Ile | |
| NM_001282545.1:c.469G>A | NP_001269474.1:p.Val157Ile | |
| NM_001282548.1:c.412G>A | NP_001269477.1:p.Val138Ile | |
| NM_001282549.1:c.365-14640G>A | NP_001269478.1:n.365-14640G>A | |
| NR_104212.1:n.1815G>A | ||
| NR_104215.1:n.1758G>A | ||
| NR_104216.1:n.1014G>A | ||
| XM_011511567.1:c.1768G>A | XP_011509869.1:p.Val590Ile | |
| XM_011511568.1:c.1822G>A | XP_011509870.1:p.Val608Ile | |
| XM_017004613.1:c.1921G>A | XP_016860102.1:p.Val641Ile | |
| XM_017004614.1:c.1921G>A | XP_016860103.1:p.Val641Ile | |
| XR_002959322.1:n.2012G>A | ||
| NM_000465.4:c.1822G>A MANE Select | NP_000456.2:p.Val608Ile | |
| NM_001282543.2:c.1765G>A | NP_001269472.1:p.Val589Ile | |
| NM_001282545.2:c.469G>A | NP_001269474.1:p.Val157Ile | |
| NM_001282548.2:c.412G>A | NP_001269477.1:p.Val138Ile | |
| NM_001282549.2:c.365-14640G>A | NP_001269478.1:n.365-14640G>A | |
| NR_104212.2:n.1787G>A | ||
| NR_104215.2:n.1730G>A | ||
| NR_104216.2:n.986G>A |