Linked Data
ClinVar Variation Id:
1490053
ClinVar RCV Id:
RCV001978475
dbSNP Id:
rs756489004
ExAC:
17:1554186 G / C
gnomAD v2:
17-1554186-G-C
gnomAD v4:
17-1650892-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1650892G>C , CM000679.2:g.1650892G>C | GRCh38 |
| NC_000017.10:g.1554186G>C , CM000679.1:g.1554186G>C | GRCh37 |
| NC_000017.9:g.1500936G>C | NCBI36 |
| NG_009118.1:g.38991C>G | |
| NG_033061.1:g.4207C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000573725.2:c.6738C>G | ENSP00000460849.2:p.His2246Gln | |
| ENST00000703537.1:c.2666C>G | ||
| ENST00000703538.1:c.*6641C>G | ENSP00000515361.1:n.*6641C>G | |
| ENST00000703539.1:n.3232C>G | ||
| ENST00000703540.1:c.6771C>G | ENSP00000515362.1:p.His2257Gln | |
| ENST00000703541.1:c.6783C>G | ENSP00000515363.1:p.His2261Gln | |
| ENST00000304992.11:c.6918C>G MANE Select | ENSP00000304350.6:p.His2306Gln | |
| ENST00000304992.10:c.6918C>G | ENSP00000304350.6:p.His2306Gln | |
| ENST00000571958.1:c.163-46C>G | ||
| ENST00000572621.5:c.6918C>G | ENSP00000460348.1:p.His2306Gln | |
| ENST00000572723.1:n.907C>G | ||
| NM_006445.3:c.6918C>G | NP_006436.3:p.His2306Gln | |
| XM_024450537.1:c.6918C>G | XP_024306305.1:p.His2306Gln | |
| NM_006445.4:c.6918C>G MANE Select | NP_006436.3:p.His2306Gln |