Linked Data
ClinVar Variation Id:
1534732
ClinVar RCV Id:
RCV002087766
dbSNP Id:
rs765266342
ExAC:
2:242690743 C / T
gnomAD v2:
2-242690743-C-T
gnomAD v3:
2-241751328-C-T
gnomAD v4:
2-241751328-C-T
COSMIC:
COSM1019019
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.241751328C>T , CM000664.2:g.241751328C>T | GRCh38 |
| NC_000002.11:g.242690743C>T , CM000664.1:g.242690743C>T | GRCh37 |
| NC_000002.10:g.242339416C>T | NCBI36 |
| NG_012012.1:g.21714C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321264.9:c.1080C>T MANE Select | ENSP00000315351.4:p.His360= | |
| ENST00000321264.8:c.1080C>T | ENSP00000315351.4:p.His360= | |
| ENST00000400769.6:c.854-4521C>T | ENSP00000383580.2:n.854-4521C>T | |
| ENST00000403782.5:c.678C>T | ENSP00000384723.1:p.His226= | |
| ENST00000432449.1:c.340C>T | ||
| ENST00000436747.5:c.*1396C>T | ENSP00000400212.1:n.*1396C>T | |
| ENST00000454048.1:c.183C>T | ENSP00000404596.1:p.His61= | |
| ENST00000467427.5:n.389+1034C>T | ||
| ENST00000470343.5:n.561C>T | ||
| ENST00000473126.1:n.279C>T | ||
| ENST00000486953.5:n.163+1034C>T | ||
| ENST00000496252.5:n.435C>T | ||
| NM_001287249.1:c.678C>T | NP_001274178.1:p.His226= | |
| NM_152783.4:c.1080C>T | NP_689996.4:p.His360= | |
| NR_109778.1:n.1063-4521C>T | ||
| XM_011511734.1:c.1158C>T | XP_011510036.1:p.His386= | |
| XM_011511735.1:c.1158C>T | XP_011510037.1:p.His386= | |
| XM_011511736.1:c.1080C>T | XP_011510038.1:p.His360= | |
| XM_011511737.1:c.1158C>T | XP_011510039.1:p.His386= | |
| XM_011511742.1:c.1295C>T | XP_011510044.1:p.Thr432Met | |
| XM_011511743.1:c.1295C>T | XP_011510045.1:p.Thr432Met | |
| XM_011511744.1:c.1295C>T | XP_011510046.1:p.Thr432Met | |
| XM_011511745.1:c.1158C>T | XP_011510047.1:p.His386= | |
| XM_011511748.1:c.1229C>T | XP_011510050.1:p.Thr410Met | |
| XM_011511749.1:c.1179+1034C>T | XP_011510051.1:n.1179+1034C>T | |
| XM_011511750.1:c.1158C>T | XP_011510052.1:p.His386= | |
| XM_011511751.1:c.1212+749C>T | XP_011510053.1:n.1212+749C>T | |
| XM_011511753.1:c.1075+1034C>T | XP_011510055.1:n.1075+1034C>T | |
| XM_011511754.1:c.597C>T | XP_011510056.1:p.His199= | |
| XM_011511755.1:c.588C>T | XP_011510057.1:p.His196= | |
| XM_011511756.1:c.853+6451C>T | XP_011510058.1:n.853+6451C>T | |
| XM_011511757.1:c.*96C>T | XP_011510059.1:n.*96C>T | |
| XR_241434.3:n.1419C>T | ||
| XR_923003.1:n.1941C>T | ||
| XR_923004.1:n.1712C>T | ||
| XR_923005.1:n.1455C>T | ||
| XR_923006.1:n.1455C>T | ||
| XR_923007.1:n.1422C>T | ||
| XR_923008.1:n.1318C>T | ||
| XR_923009.1:n.1318C>T | ||
| XR_923010.1:n.1752C>T | ||
| XR_923011.1:n.1523C>T | ||
| XR_923012.1:n.1457C>T | ||
| XR_923014.1:n.1014-4521C>T | ||
| NM_001352824.1:c.519C>T | NP_001339753.1:p.His173= | |
| XM_011511734.2:c.1158C>T | XP_011510036.1:p.His386= | |
| XM_011511735.2:c.1158C>T | XP_011510037.1:p.His386= | |
| XM_011511736.2:c.1080C>T | XP_011510038.1:p.His360= | |
| XM_011511737.3:c.1158C>T | XP_011510039.1:p.His386= | |
| XM_011511743.2:c.1295C>T | XP_011510045.1:p.Thr432Met | |
| XM_011511744.2:c.1295C>T | XP_011510046.1:p.Thr432Met | |
| XM_011511745.3:c.1158C>T | XP_011510047.1:p.His386= | |
| XM_011511749.3:c.1179+1034C>T | XP_011510051.1:n.1179+1034C>T | |
| XM_011511750.3:c.1158C>T | XP_011510052.1:p.His386= | |
| XM_011511751.2:c.1212+749C>T | XP_011510053.1:n.1212+749C>T | |
| XM_011511753.3:c.1075+1034C>T | XP_011510055.1:n.1075+1034C>T | |
| XM_011511756.2:c.853+6451C>T | XP_011510058.1:n.853+6451C>T | |
| XM_017004828.2:c.1080C>T | XP_016860317.1:p.His360= | |
| XM_017004829.2:c.1295C>T | XP_016860318.1:p.Thr432Met | |
| XM_017004830.2:c.1158C>T | XP_016860319.1:p.His386= | |
| XM_024453102.1:c.930C>T | XP_024308870.1:p.His310= | |
| XR_001738918.2:n.1454C>T | ||
| XR_001738919.2:n.1388C>T | ||
| XR_002959334.1:n.1940C>T | ||
| XR_002959335.1:n.1584C>T | ||
| XR_241434.4:n.1418C>T | ||
| XR_923004.3:n.1711C>T | ||
| XR_923005.2:n.1454C>T | ||
| XR_923007.3:n.1421C>T | ||
| XR_923009.2:n.1317C>T | ||
| XR_923010.2:n.1751C>T | ||
| XR_923011.3:n.1522C>T | ||
| XR_923012.2:n.1456C>T | ||
| XR_923014.3:n.1013-4521C>T | ||
| NM_152783.5:c.1080C>T MANE Select | NP_689996.4:p.His360= | |
| NM_001287249.2:c.678C>T | NP_001274178.1:p.His226= | |
| NM_001352824.2:c.519C>T | NP_001339753.1:p.His173= | |
| NR_109778.2:n.1012-4521C>T |