Linked Data
ClinVar Variation Id:
41519
dbSNP Id:
rs75870842
ExAC:
5:112163681 C / T
gnomAD v2:
5-112163681-C-T
gnomAD v3:
5-112827984-C-T
gnomAD v4:
5-112827984-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112827984C>T , CM000667.2:g.112827984C>T | GRCh38 |
| NC_000005.9:g.112163681C>T , CM000667.1:g.112163681C>T | GRCh37 |
| NC_000005.8:g.112191580C>T | NCBI36 |
| NG_008481.4:g.140464C>T , LRG_130:g.140464C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.1408+5993C>T | ENSP00000484935.2:n.1408+5993C>T | |
| ENST00000504915.3:c.1658C>T | ENSP00000473355.2:p.Ser553Phe | |
| ENST00000505084.2:n.1660C>T | ||
| ENST00000505350.2:c.*1610C>T | ENSP00000481752.1:n.*1610C>T | |
| ENST00000507379.6:c.1550C>T | ENSP00000423224.2:p.Ser517Phe | |
| ENST00000509732.6:c.1604C>T | ENSP00000426541.2:p.Ser535Phe | |
| ENST00000512211.7:c.1604C>T | ENSP00000423828.3:p.Ser535Phe | |
| ENST00000257430.9:c.1604C>T MANE Select | ENSP00000257430.4:p.Ser535Phe | |
| ENST00000257430.8:c.1604C>T | ENSP00000257430.4:p.Ser535Phe | |
| ENST00000502371.2:c.96+5993C>T | ||
| ENST00000504915.2:c.293C>T | ENSP00000473355.1:p.Ser98Phe | |
| ENST00000505084.1:n.91C>T | ||
| ENST00000507379.5:c.1550C>T | ENSP00000423224.1:p.Ser517Phe | |
| ENST00000508376.6:c.1604C>T | ENSP00000427089.2:p.Ser535Phe | |
| ENST00000508624.5:c.*926C>T | ENSP00000424265.1:n.*926C>T | |
| ENST00000512211.6:c.1604C>T | ENSP00000423828.2:p.Ser535Phe | |
| ENST00000520401.1:c.91C>T | ||
| NM_000038.5:c.1604C>T | NP_000029.2:p.Ser535Phe | |
| NM_001127510.2:c.1604C>T | NP_001120982.1:p.Ser535Phe | |
| NM_001127511.2:c.1550C>T | NP_001120983.2:p.Ser517Phe | |
| NM_001354895.1:c.1604C>T | NP_001341824.1:p.Ser535Phe | |
| NM_001354896.1:c.1658C>T | NP_001341825.1:p.Ser553Phe | |
| NM_001354897.1:c.1634C>T | NP_001341826.1:p.Ser545Phe | |
| NM_001354898.1:c.1529C>T | NP_001341827.1:p.Ser510Phe | |
| NM_001354899.1:c.1520C>T | NP_001341828.1:p.Ser507Phe | |
| NM_001354900.1:c.1481C>T | NP_001341829.1:p.Ser494Phe | |
| NM_001354901.1:c.1427C>T | NP_001341830.1:p.Ser476Phe | |
| NM_001354902.1:c.1331C>T | NP_001341831.1:p.Ser444Phe | |
| NM_001354903.1:c.1301C>T | NP_001341832.1:p.Ser434Phe | |
| NM_001354904.1:c.1226C>T | NP_001341833.1:p.Ser409Phe | |
| NM_001354905.1:c.1124C>T | NP_001341834.1:p.Ser375Phe | |
| NM_001354906.1:c.755C>T | NP_001341835.1:p.Ser252Phe | |
| NM_000038.6:c.1604C>T MANE Select | NP_000029.2:p.Ser535Phe | |
| NM_001127510.3:c.1604C>T | NP_001120982.1:p.Ser535Phe | |
| NM_001127511.3:c.1550C>T | NP_001120983.2:p.Ser517Phe | |
| NM_001354895.2:c.1604C>T | NP_001341824.1:p.Ser535Phe | |
| NM_001354896.2:c.1658C>T | NP_001341825.1:p.Ser553Phe | |
| NM_001354897.2:c.1634C>T | NP_001341826.1:p.Ser545Phe | |
| NM_001354898.2:c.1529C>T | NP_001341827.1:p.Ser510Phe | |
| NM_001354899.2:c.1520C>T | NP_001341828.1:p.Ser507Phe | |
| NM_001354900.2:c.1481C>T | NP_001341829.1:p.Ser494Phe | |
| NM_001354901.2:c.1427C>T | NP_001341830.1:p.Ser476Phe | |
| NM_001354902.2:c.1331C>T | NP_001341831.1:p.Ser444Phe | |
| NM_001354903.2:c.1301C>T | NP_001341832.1:p.Ser434Phe | |
| NM_001354904.2:c.1226C>T | NP_001341833.1:p.Ser409Phe | |
| NM_001354905.2:c.1124C>T | NP_001341834.1:p.Ser375Phe | |
| NM_001354906.2:c.755C>T | NP_001341835.1:p.Ser252Phe |