Linked Data
dbSNP Id:
rs747851006
ExAC:
8:116426347 A / T
gnomAD v2:
8-116426347-A-T
gnomAD v4:
8-115414119-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.115414119A>T , CM000670.2:g.115414119A>T | GRCh38 |
| NC_000008.10:g.116426347A>T , CM000670.1:g.116426347A>T | GRCh37 |
| NC_000008.9:g.116495523A>T | NCBI36 |
| NG_012383.3:g.259883T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395715.8:c.3789T>A MANE Select | ENSP00000379065.3:p.His1263Gln | |
| ENST00000640765.1:c.3750T>A | ENSP00000492037.1:p.His1250Gln | |
| ENST00000220888.9:c.3750T>A | ENSP00000220888.5:p.His1250Gln | |
| ENST00000395715.7:c.3789T>A | ENSP00000379065.3:p.His1263Gln | |
| ENST00000519076.5:c.3012T>A | ENSP00000428910.1:p.His1004Gln | |
| ENST00000520276.5:c.3762T>A | ENSP00000428680.1:p.His1254Gln | |
| NM_001282902.2:c.3762T>A | NP_001269831.1:p.His1254Gln | |
| NM_001282903.2:c.3768T>A | NP_001269832.1:p.His1256Gln | |
| NM_014112.4:c.3789T>A | NP_054831.2:p.His1263Gln | |
| XM_005251049.2:c.3750T>A | XP_005251106.1:p.His1250Gln | |
| XM_006716625.1:c.3789T>A | XP_006716688.1:p.His1263Gln | |
| XM_011517264.1:c.3789T>A | XP_011515566.1:p.His1263Gln | |
| XM_011517265.1:c.3789T>A | XP_011515567.1:p.His1263Gln | |
| XM_011517266.1:c.3789T>A | XP_011515568.1:p.His1263Gln | |
| XM_011517267.1:c.3768T>A | XP_011515569.1:p.His1256Gln | |
| XM_011517268.1:c.3750T>A | XP_011515570.1:p.His1250Gln | |
| NM_001330599.1:c.3750T>A | NP_001317528.1:p.His1250Gln | |
| XM_011517264.2:c.3789T>A | XP_011515566.1:p.His1263Gln | |
| XM_011517266.3:c.3789T>A | XP_011515568.1:p.His1263Gln | |
| XM_011517268.2:c.3750T>A | XP_011515570.1:p.His1250Gln | |
| NM_001282902.3:c.3762T>A | NP_001269831.1:p.His1254Gln | |
| NM_001282903.3:c.3768T>A | NP_001269832.1:p.His1256Gln | |
| NM_001330599.2:c.3750T>A | NP_001317528.1:p.His1250Gln | |
| NM_014112.5:c.3789T>A MANE Select | NP_054831.2:p.His1263Gln |