Linked Data
dbSNP Id:
rs537943038
gnomAD v2:
19-34890878-C-T
gnomAD v3:
19-34399973-C-T
gnomAD v4:
19-34399973-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.34399973C>T , CM000681.2:g.34399973C>T | GRCh38 |
| NC_000019.9:g.34890878C>T , CM000681.1:g.34890878C>T | GRCh37 |
| NC_000019.8:g.39582718C>T | NCBI36 |
| NG_012838.2:g.40234C>T | |
| NG_012838.3:g.45382C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356487.11:c.1614C>T MANE Select | ENSP00000348877.3:p.His538= | |
| ENST00000415930.8:c.1731C>T | ENSP00000405573.3:p.His577= | |
| ENST00000586425.2:c.1280C>T | ||
| ENST00000588991.7:c.1647C>T | ENSP00000465858.3:p.His549= | |
| ENST00000643067.1:n.2659C>T | ||
| ENST00000647446.1:c.*665C>T | ENSP00000495129.1:n.*665C>T | |
| ENST00000356487.9:c.1614C>T | ENSP00000348877.3:p.His538= | |
| ENST00000415930.7:c.1647C>T | ENSP00000405573.2:p.His549= | |
| ENST00000586077.1:n.2691C>T | ||
| ENST00000586392.1:n.1352C>T | ||
| ENST00000586425.1:c.*46C>T | ENSP00000467670.2:n.*46C>T | |
| ENST00000588991.6:c.1659C>T | ENSP00000465858.2:p.His553= | |
| ENST00000592740.5:c.193+3316C>T | ||
| NM_000175.3:c.1614C>T | NP_000166.2:p.His538= | |
| NM_001184722.1:c.1647C>T | NP_001171651.1:p.His549= | |
| NM_001289789.1:c.1731C>T | NP_001276718.1:p.His577= | |
| NM_001289790.1:c.1530C>T | NP_001276719.1:p.His510= | |
| XM_005258764.1:c.1614C>T | XP_005258821.1:p.His538= | |
| XM_006723148.1:c.1614C>T | XP_006723211.1:p.His538= | |
| XM_011526754.1:c.1731C>T | XP_011525056.1:p.His577= | |
| NM_000175.5:c.1614C>T MANE Select | NP_000166.2:p.His538= | |
| NM_001289790.2:c.1530C>T | NP_001276719.1:p.His510= | |
| NM_001329909.1:c.1614C>T | NP_001316838.1:p.His538= | |
| NM_001329910.1:c.1614C>T | NP_001316839.1:p.His538= | |
| NM_001329911.1:c.1587C>T | NP_001316840.1:p.His529= | |
| XM_011526754.3:c.1731C>T | XP_011525056.1:p.His577= | |
| NM_001289790.3:c.1530C>T | NP_001276719.1:p.His510= | |
| NM_001329911.2:c.1587C>T | NP_001316840.1:p.His529= |