Linked Data
ClinVar Variation Id:
186084
dbSNP Id:
rs142619269
ExAC:
5:131927610 C / T
gnomAD v2:
5-131927610-C-T
gnomAD v3:
5-132591918-C-T
gnomAD v4:
5-132591918-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132591918C>T , CM000667.2:g.132591918C>T | GRCh38 |
| NC_000005.9:g.131927610C>T , CM000667.1:g.131927610C>T | GRCh37 |
| NC_000005.8:g.131955509C>T | NCBI36 |
| NG_021151.1:g.39995C>T | |
| NG_021151.2:g.39942C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378823.8:c.1677C>T MANE Select | ENSP00000368100.4:p.His559= | |
| ENST00000638452.2:c.1380C>T | ENSP00000492349.2:p.His460= | |
| ENST00000638504.1:n.1363C>T | ||
| ENST00000638568.2:c.1380C>T | ENSP00000491158.2:p.His460= | |
| ENST00000639899.1:n.2196C>T | ||
| ENST00000640655.2:c.1380C>T | ENSP00000491596.2:p.His460= | |
| ENST00000651160.1:c.1677C>T | ENSP00000498829.1:p.His559= | |
| ENST00000651541.1:c.1380C>T | ENSP00000498795.1:p.His460= | |
| ENST00000651658.1:n.2104C>T | ||
| ENST00000651723.1:c.*1760C>T | ENSP00000498237.1:n.*1760C>T | |
| ENST00000652016.1:c.1677C>T | ENSP00000498267.1:p.His559= | |
| ENST00000652485.1:c.1710C>T | ENSP00000498973.1:p.His570= | |
| ENST00000378823.7:c.1677C>T | ENSP00000368100.4:p.His559= | |
| ENST00000423956.5:c.1635+512C>T | ENSP00000390971.1:n.1635+512C>T | |
| ENST00000434288.1:c.172C>T | ||
| ENST00000453394.5:c.1494C>T | ENSP00000400049.1:p.His498= | |
| ENST00000533482.5:c.*1303C>T | ENSP00000431225.1:n.*1303C>T | |
| NM_005732.3:c.1677C>T | NP_005723.2:p.His559= | |
| NM_005732.4:c.1677C>T MANE Select | NP_005723.2:p.His559= |