Linked Data
ClinVar Variation Id:
2853279
ClinVar RCV Id:
RCV003695951
MyVariant Identifiers:
chr17:g.1554165G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1650871G>A , CM000679.2:g.1650871G>A | GRCh38 |
| NC_000017.10:g.1554165G>A , CM000679.1:g.1554165G>A | GRCh37 |
| NC_000017.9:g.1500915G>A | NCBI36 |
| NG_009118.1:g.39012C>T | |
| NG_033061.1:g.4228C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000573725.2:c.6759C>T | ENSP00000460849.2:p.His2253= | |
| ENST00000703537.1:c.2687C>T | ||
| ENST00000703538.1:c.*6662C>T | ENSP00000515361.1:n.*6662C>T | |
| ENST00000703539.1:n.3253C>T | ||
| ENST00000703540.1:c.6792C>T | ENSP00000515362.1:p.His2264= | |
| ENST00000703541.1:c.6804C>T | ENSP00000515363.1:p.His2268= | |
| ENST00000304992.11:c.6939C>T MANE Select | ENSP00000304350.6:p.His2313= | |
| ENST00000304992.10:c.6939C>T | ENSP00000304350.6:p.His2313= | |
| ENST00000571958.1:c.163-25C>T | ||
| ENST00000572621.5:c.6939C>T | ENSP00000460348.1:p.His2313= | |
| ENST00000572723.1:n.928C>T | ||
| NM_006445.3:c.6939C>T | NP_006436.3:p.His2313= | |
| XM_024450537.1:c.6939C>T | XP_024306305.1:p.His2313= | |
| NM_006445.4:c.6939C>T MANE Select | NP_006436.3:p.His2313= |