Linked Data
ClinVar Variation Id:
141168
dbSNP Id:
rs587781546
ExAC:
5:112177170 C / T
gnomAD v2:
5-112177170-C-T
gnomAD v3:
5-112841473-C-T
gnomAD v4:
5-112841473-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112841473C>T , CM000667.2:g.112841473C>T | GRCh38 |
| NC_000005.9:g.112177170C>T , CM000667.1:g.112177170C>T | GRCh37 |
| NC_000005.8:g.112205069C>T | NCBI36 |
| NG_008481.4:g.153953C>T , LRG_130:g.153953C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.5933C>T | ENSP00000473355.2:p.Pro1978Leu | |
| ENST00000505350.2:c.*5885C>T | ENSP00000481752.1:n.*5885C>T | |
| ENST00000507379.6:c.5825C>T | ENSP00000423224.2:p.Pro1942Leu | |
| ENST00000509732.6:c.5879C>T | ENSP00000426541.2:p.Pro1960Leu | |
| ENST00000512211.7:c.5879C>T | ENSP00000423828.3:p.Pro1960Leu | |
| ENST00000257430.9:c.5879C>T MANE Select | ENSP00000257430.4:p.Pro1960Leu | |
| ENST00000257430.8:c.5879C>T | ENSP00000257430.4:p.Pro1960Leu | |
| ENST00000508376.6:c.5879C>T | ENSP00000427089.2:p.Pro1960Leu | |
| ENST00000508624.5:c.*5201C>T | ENSP00000424265.1:n.*5201C>T | |
| ENST00000520401.1:c.230+12501C>T | ||
| NM_000038.5:c.5879C>T | NP_000029.2:p.Pro1960Leu | |
| NM_001127510.2:c.5879C>T | NP_001120982.1:p.Pro1960Leu | |
| NM_001127511.2:c.5825C>T | NP_001120983.2:p.Pro1942Leu | |
| NM_001354895.1:c.5879C>T | NP_001341824.1:p.Pro1960Leu | |
| NM_001354896.1:c.5933C>T | NP_001341825.1:p.Pro1978Leu | |
| NM_001354897.1:c.5909C>T | NP_001341826.1:p.Pro1970Leu | |
| NM_001354898.1:c.5804C>T | NP_001341827.1:p.Pro1935Leu | |
| NM_001354899.1:c.5795C>T | NP_001341828.1:p.Pro1932Leu | |
| NM_001354900.1:c.5756C>T | NP_001341829.1:p.Pro1919Leu | |
| NM_001354901.1:c.5702C>T | NP_001341830.1:p.Pro1901Leu | |
| NM_001354902.1:c.5606C>T | NP_001341831.1:p.Pro1869Leu | |
| NM_001354903.1:c.5576C>T | NP_001341832.1:p.Pro1859Leu | |
| NM_001354904.1:c.5501C>T | NP_001341833.1:p.Pro1834Leu | |
| NM_001354905.1:c.5399C>T | NP_001341834.1:p.Pro1800Leu | |
| NM_001354906.1:c.5030C>T | NP_001341835.1:p.Pro1677Leu | |
| NM_000038.6:c.5879C>T MANE Select | NP_000029.2:p.Pro1960Leu | |
| NM_001127510.3:c.5879C>T | NP_001120982.1:p.Pro1960Leu | |
| NM_001127511.3:c.5825C>T | NP_001120983.2:p.Pro1942Leu | |
| NM_001354895.2:c.5879C>T | NP_001341824.1:p.Pro1960Leu | |
| NM_001354896.2:c.5933C>T | NP_001341825.1:p.Pro1978Leu | |
| NM_001354897.2:c.5909C>T | NP_001341826.1:p.Pro1970Leu | |
| NM_001354898.2:c.5804C>T | NP_001341827.1:p.Pro1935Leu | |
| NM_001354899.2:c.5795C>T | NP_001341828.1:p.Pro1932Leu | |
| NM_001354900.2:c.5756C>T | NP_001341829.1:p.Pro1919Leu | |
| NM_001354901.2:c.5702C>T | NP_001341830.1:p.Pro1901Leu | |
| NM_001354902.2:c.5606C>T | NP_001341831.1:p.Pro1869Leu | |
| NM_001354903.2:c.5576C>T | NP_001341832.1:p.Pro1859Leu | |
| NM_001354904.2:c.5501C>T | NP_001341833.1:p.Pro1834Leu | |
| NM_001354905.2:c.5399C>T | NP_001341834.1:p.Pro1800Leu | |
| NM_001354906.2:c.5030C>T | NP_001341835.1:p.Pro1677Leu |