Linked Data
dbSNP Id:
rs777081975
ExAC:
2:242707198 C / T
gnomAD v2:
2-242707198-C-T
gnomAD v3:
2-241767783-C-T
gnomAD v4:
2-241767783-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.241767783C>T , CM000664.2:g.241767783C>T | GRCh38 |
| NC_000002.11:g.242707198C>T , CM000664.1:g.242707198C>T | GRCh37 |
| NC_000002.10:g.242355871C>T | NCBI36 |
| NG_012012.1:g.38169C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321264.9:c.1380C>T MANE Select | ENSP00000315351.4:p.His460= | |
| ENST00000321264.8:c.1380C>T | ENSP00000315351.4:p.His460= | |
| ENST00000400769.6:c.*130C>T | ENSP00000383580.2:n.*130C>T | |
| ENST00000403782.5:c.978C>T | ENSP00000384723.1:p.His326= | |
| ENST00000436747.5:c.*2616C>T | ENSP00000400212.1:n.*2616C>T | |
| ENST00000445308.1:c.776C>T | ||
| ENST00000468064.5:n.1270C>T | ||
| ENST00000470343.5:n.861C>T | ||
| ENST00000473126.1:n.579C>T | ||
| ENST00000486953.5:n.1204C>T | ||
| ENST00000610344.1:c.*224C>T | ENSP00000481906.1:n.*224C>T | |
| NM_001287249.1:c.978C>T | NP_001274178.1:p.His326= | |
| NM_152783.4:c.1380C>T | NP_689996.4:p.His460= | |
| NR_109778.1:n.1302C>T | ||
| XM_011511734.1:c.1500C>T | XP_011510036.1:p.His500= | |
| XM_011511735.1:c.1458C>T | XP_011510037.1:p.His486= | |
| XM_011511736.1:c.1422C>T | XP_011510038.1:p.His474= | |
| XM_011511744.1:c.*112C>T | XP_011510046.1:n.*112C>T | |
| XM_011511750.1:c.*47C>T | XP_011510052.1:n.*47C>T | |
| XM_011511754.1:c.939C>T | XP_011510056.1:p.His313= | |
| XM_011511755.1:c.930C>T | XP_011510057.1:p.His310= | |
| XM_011511756.1:c.927C>T | XP_011510058.1:p.His309= | |
| XR_923004.1:n.2012C>T | ||
| XR_923007.1:n.1722C>T | ||
| XR_923011.1:n.1823C>T | ||
| NM_001352824.1:c.819C>T | NP_001339753.1:p.His273= | |
| XM_011511734.2:c.1500C>T | XP_011510036.1:p.His500= | |
| XM_011511735.2:c.1458C>T | XP_011510037.1:p.His486= | |
| XM_011511736.2:c.1422C>T | XP_011510038.1:p.His474= | |
| XM_011511744.2:c.*112C>T | XP_011510046.1:n.*112C>T | |
| XM_011511750.3:c.*47C>T | XP_011510052.1:n.*47C>T | |
| XM_011511756.2:c.927C>T | XP_011510058.1:p.His309= | |
| XM_024453102.1:c.1272C>T | XP_024308870.1:p.His424= | |
| XR_001738918.2:n.1754C>T | ||
| XR_001738919.2:n.1688C>T | ||
| XR_923004.3:n.2011C>T | ||
| XR_923007.3:n.1721C>T | ||
| XR_923011.3:n.1822C>T | ||
| NM_152783.5:c.1380C>T MANE Select | NP_689996.4:p.His460= | |
| NM_001287249.2:c.978C>T | NP_001274178.1:p.His326= | |
| NM_001352824.2:c.819C>T | NP_001339753.1:p.His273= | |
| NR_109778.2:n.1251C>T |