Linked Data
ClinVar Variation Id:
188223
dbSNP Id:
rs773020689
ExAC:
5:112173531 C / T
gnomAD v2:
5-112173531-C-T
gnomAD v3:
5-112837834-C-T
gnomAD v4:
5-112837834-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112837834C>T , CM000667.2:g.112837834C>T | GRCh38 |
| NC_000005.9:g.112173531C>T , CM000667.1:g.112173531C>T | GRCh37 |
| NC_000005.8:g.112201430C>T | NCBI36 |
| NG_008481.4:g.150314C>T , LRG_130:g.150314C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.1905C>T | ENSP00000484935.2:n.1905C>T | |
| ENST00000504915.3:c.2294C>T | ENSP00000473355.2:p.Ser765Leu | |
| ENST00000505350.2:c.*2246C>T | ENSP00000481752.1:n.*2246C>T | |
| ENST00000507379.6:c.2186C>T | ENSP00000423224.2:p.Ser729Leu | |
| ENST00000509732.6:c.2240C>T | ENSP00000426541.2:p.Ser747Leu | |
| ENST00000512211.7:c.2240C>T | ENSP00000423828.3:p.Ser747Leu | |
| ENST00000257430.9:c.2240C>T MANE Select | ENSP00000257430.4:p.Ser747Leu | |
| ENST00000257430.8:c.2240C>T | ENSP00000257430.4:p.Ser747Leu | |
| ENST00000502371.2:c.593C>T | ||
| ENST00000507379.5:c.2186C>T | ENSP00000423224.1:p.Ser729Leu | |
| ENST00000508376.6:c.2240C>T | ENSP00000427089.2:p.Ser747Leu | |
| ENST00000508624.5:c.*1562C>T | ENSP00000424265.1:n.*1562C>T | |
| ENST00000512211.6:c.2240C>T | ENSP00000423828.2:p.Ser747Leu | |
| ENST00000520401.1:c.230+8862C>T | ||
| NM_000038.5:c.2240C>T | NP_000029.2:p.Ser747Leu | |
| NM_001127510.2:c.2240C>T | NP_001120982.1:p.Ser747Leu | |
| NM_001127511.2:c.2186C>T | NP_001120983.2:p.Ser729Leu | |
| NM_001354895.1:c.2240C>T | NP_001341824.1:p.Ser747Leu | |
| NM_001354896.1:c.2294C>T | NP_001341825.1:p.Ser765Leu | |
| NM_001354897.1:c.2270C>T | NP_001341826.1:p.Ser757Leu | |
| NM_001354898.1:c.2165C>T | NP_001341827.1:p.Ser722Leu | |
| NM_001354899.1:c.2156C>T | NP_001341828.1:p.Ser719Leu | |
| NM_001354900.1:c.2117C>T | NP_001341829.1:p.Ser706Leu | |
| NM_001354901.1:c.2063C>T | NP_001341830.1:p.Ser688Leu | |
| NM_001354902.1:c.1967C>T | NP_001341831.1:p.Ser656Leu | |
| NM_001354903.1:c.1937C>T | NP_001341832.1:p.Ser646Leu | |
| NM_001354904.1:c.1862C>T | NP_001341833.1:p.Ser621Leu | |
| NM_001354905.1:c.1760C>T | NP_001341834.1:p.Ser587Leu | |
| NM_001354906.1:c.1391C>T | NP_001341835.1:p.Ser464Leu | |
| NM_000038.6:c.2240C>T MANE Select | NP_000029.2:p.Ser747Leu | |
| NM_001127510.3:c.2240C>T | NP_001120982.1:p.Ser747Leu | |
| NM_001127511.3:c.2186C>T | NP_001120983.2:p.Ser729Leu | |
| NM_001354895.2:c.2240C>T | NP_001341824.1:p.Ser747Leu | |
| NM_001354896.2:c.2294C>T | NP_001341825.1:p.Ser765Leu | |
| NM_001354897.2:c.2270C>T | NP_001341826.1:p.Ser757Leu | |
| NM_001354898.2:c.2165C>T | NP_001341827.1:p.Ser722Leu | |
| NM_001354899.2:c.2156C>T | NP_001341828.1:p.Ser719Leu | |
| NM_001354900.2:c.2117C>T | NP_001341829.1:p.Ser706Leu | |
| NM_001354901.2:c.2063C>T | NP_001341830.1:p.Ser688Leu | |
| NM_001354902.2:c.1967C>T | NP_001341831.1:p.Ser656Leu | |
| NM_001354903.2:c.1937C>T | NP_001341832.1:p.Ser646Leu | |
| NM_001354904.2:c.1862C>T | NP_001341833.1:p.Ser621Leu | |
| NM_001354905.2:c.1760C>T | NP_001341834.1:p.Ser587Leu | |
| NM_001354906.2:c.1391C>T | NP_001341835.1:p.Ser464Leu |