Linked Data
ClinVar Variation Id:
1514382
ClinVar RCV Id:
RCV002018630
dbSNP Id:
rs770576612
ExAC:
17:17697120 G / T
gnomAD v2:
17-17697120-G-T
gnomAD v4:
17-17793806-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.17793806G>T , CM000679.2:g.17793806G>T | GRCh38 |
| NC_000017.10:g.17697120G>T , CM000679.1:g.17697120G>T | GRCh37 |
| NC_000017.9:g.17637845G>T | NCBI36 |
| NG_007101.2:g.117334G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353383.6:c.858G>T MANE Select | ENSP00000323074.4:p.Gln286His | |
| ENST00000640861.1:c.792G>T | ENSP00000491773.1:p.Gln264His | |
| ENST00000353383.5:c.858G>T | ENSP00000323074.4:p.Gln286His | |
| ENST00000395774.1:c.858G>T | ENSP00000379120.1:p.Gln286His | |
| NM_030665.3:c.858G>T | NP_109590.3:p.Gln286His | |
| XM_017024025.1:c.858G>T | XP_016879514.1:p.Gln286His | |
| XM_017024026.1:c.858G>T | XP_016879515.1:p.Gln286His | |
| XM_017024027.1:c.858G>T | XP_016879516.1:p.Gln286His | |
| XM_017024028.2:c.858G>T | XP_016879517.1:p.Gln286His | |
| NM_030665.4:c.858G>T MANE Select | NP_109590.3:p.Gln286His |