Linked Data
ClinVar Variation Id:
418611
dbSNP Id:
rs748868815
ExAC:
5:112173500 T / C
gnomAD v2:
5-112173500-T-C
gnomAD v3:
5-112837803-T-C
gnomAD v4:
5-112837803-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112837803T>C , CM000667.2:g.112837803T>C | GRCh38 |
| NC_000005.9:g.112173500T>C , CM000667.1:g.112173500T>C | GRCh37 |
| NC_000005.8:g.112201399T>C | NCBI36 |
| NG_008481.4:g.150283T>C , LRG_130:g.150283T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.1874T>C | ENSP00000484935.2:n.1874T>C | |
| ENST00000504915.3:c.2263T>C | ENSP00000473355.2:p.Tyr755His | |
| ENST00000505350.2:c.*2215T>C | ENSP00000481752.1:n.*2215T>C | |
| ENST00000507379.6:c.2155T>C | ENSP00000423224.2:p.Tyr719His | |
| ENST00000509732.6:c.2209T>C | ENSP00000426541.2:p.Tyr737His | |
| ENST00000512211.7:c.2209T>C | ENSP00000423828.3:p.Tyr737His | |
| ENST00000257430.9:c.2209T>C MANE Select | ENSP00000257430.4:p.Tyr737His | |
| ENST00000257430.8:c.2209T>C | ENSP00000257430.4:p.Tyr737His | |
| ENST00000502371.2:c.562T>C | ||
| ENST00000507379.5:c.2155T>C | ENSP00000423224.1:p.Tyr719His | |
| ENST00000508376.6:c.2209T>C | ENSP00000427089.2:p.Tyr737His | |
| ENST00000508624.5:c.*1531T>C | ENSP00000424265.1:n.*1531T>C | |
| ENST00000512211.6:c.2209T>C | ENSP00000423828.2:p.Tyr737His | |
| ENST00000520401.1:c.230+8831T>C | ||
| NM_000038.5:c.2209T>C | NP_000029.2:p.Tyr737His | |
| NM_001127510.2:c.2209T>C | NP_001120982.1:p.Tyr737His | |
| NM_001127511.2:c.2155T>C | NP_001120983.2:p.Tyr719His | |
| NM_001354895.1:c.2209T>C | NP_001341824.1:p.Tyr737His | |
| NM_001354896.1:c.2263T>C | NP_001341825.1:p.Tyr755His | |
| NM_001354897.1:c.2239T>C | NP_001341826.1:p.Tyr747His | |
| NM_001354898.1:c.2134T>C | NP_001341827.1:p.Tyr712His | |
| NM_001354899.1:c.2125T>C | NP_001341828.1:p.Tyr709His | |
| NM_001354900.1:c.2086T>C | NP_001341829.1:p.Tyr696His | |
| NM_001354901.1:c.2032T>C | NP_001341830.1:p.Tyr678His | |
| NM_001354902.1:c.1936T>C | NP_001341831.1:p.Tyr646His | |
| NM_001354903.1:c.1906T>C | NP_001341832.1:p.Tyr636His | |
| NM_001354904.1:c.1831T>C | NP_001341833.1:p.Tyr611His | |
| NM_001354905.1:c.1729T>C | NP_001341834.1:p.Tyr577His | |
| NM_001354906.1:c.1360T>C | NP_001341835.1:p.Tyr454His | |
| NM_000038.6:c.2209T>C MANE Select | NP_000029.2:p.Tyr737His | |
| NM_001127510.3:c.2209T>C | NP_001120982.1:p.Tyr737His | |
| NM_001127511.3:c.2155T>C | NP_001120983.2:p.Tyr719His | |
| NM_001354895.2:c.2209T>C | NP_001341824.1:p.Tyr737His | |
| NM_001354896.2:c.2263T>C | NP_001341825.1:p.Tyr755His | |
| NM_001354897.2:c.2239T>C | NP_001341826.1:p.Tyr747His | |
| NM_001354898.2:c.2134T>C | NP_001341827.1:p.Tyr712His | |
| NM_001354899.2:c.2125T>C | NP_001341828.1:p.Tyr709His | |
| NM_001354900.2:c.2086T>C | NP_001341829.1:p.Tyr696His | |
| NM_001354901.2:c.2032T>C | NP_001341830.1:p.Tyr678His | |
| NM_001354902.2:c.1936T>C | NP_001341831.1:p.Tyr646His | |
| NM_001354903.2:c.1906T>C | NP_001341832.1:p.Tyr636His | |
| NM_001354904.2:c.1831T>C | NP_001341833.1:p.Tyr611His | |
| NM_001354905.2:c.1729T>C | NP_001341834.1:p.Tyr577His | |
| NM_001354906.2:c.1360T>C | NP_001341835.1:p.Tyr454His |