Linked Data
ClinVar Variation Id:
1345956
dbSNP Id:
rs373897153
ExAC:
15:44862753 G / T
gnomAD v2:
15-44862753-G-T
gnomAD v3:
15-44570555-G-T
gnomAD v4:
15-44570555-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44570555G>T , CM000677.2:g.44570555G>T | GRCh38 |
| NC_000015.9:g.44862753G>T , CM000677.1:g.44862753G>T | GRCh37 |
| NC_000015.8:g.42650045G>T | NCBI36 |
| NG_008885.1:g.98124C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558138.2:c.246C>A | ENSP00000453314.2:p.His82Gln | |
| ENST00000559511.6:c.5970C>A | ENSP00000453246.2:p.His1990Gln | |
| ENST00000682065.1:c.6303C>A | ENSP00000507025.1:p.His2101Gln | |
| ENST00000682460.1:c.*2704C>A | ENSP00000508334.1:n.*2704C>A | |
| ENST00000682495.1:c.*2939C>A | ENSP00000507166.1:n.*2939C>A | |
| ENST00000682669.1:c.6246C>A | ENSP00000507782.1:p.His2082Gln | |
| ENST00000683186.1:c.*3210C>A | ENSP00000507268.1:n.*3210C>A | |
| ENST00000683496.1:c.*89C>A | ENSP00000506968.1:n.*89C>A | |
| ENST00000683734.1:c.*397C>A | ENSP00000508319.1:n.*397C>A | |
| ENST00000683753.1:n.5493C>A | ||
| ENST00000684038.1:c.*2867C>A | ENSP00000507141.1:n.*2867C>A | |
| ENST00000684235.1:c.6447C>A | ENSP00000508295.1:p.His2149Gln | |
| ENST00000261866.12:c.6447C>A MANE Select | ENSP00000261866.7:p.His2149Gln | |
| ENST00000261866.11:c.6447C>A | ENSP00000261866.7:p.His2149Gln | |
| ENST00000427534.6:c.6447C>A | ENSP00000396110.2:p.His2149Gln | |
| ENST00000535302.6:c.6108C>A | ENSP00000445278.2:p.His2036Gln | |
| ENST00000558138.1:c.246C>A | ENSP00000453314.1:p.His82Gln | |
| ENST00000559347.1:n.276C>A | ||
| ENST00000559511.5:c.818C>A | ||
| ENST00000559933.1:n.516C>A | ||
| ENST00000561268.5:n.275+2128C>A | ||
| NM_001160227.1:c.6108C>A | NP_001153699.1:p.His2036Gln | |
| NM_025137.3:c.6447C>A | NP_079413.3:p.His2149Gln | |
| XM_005254695.3:c.6189C>A | XP_005254752.1:p.His2063Gln | |
| XM_006720700.1:c.6303C>A | XP_006720763.1:p.His2101Gln | |
| XM_017022634.1:c.6447C>A | XP_016878123.1:p.His2149Gln | |
| XM_017022636.1:c.3324C>A | XP_016878125.1:p.His1108Gln | |
| NM_025137.4:c.6447C>A MANE Select | NP_079413.3:p.His2149Gln | |
| NM_001160227.2:c.6108C>A | NP_001153699.1:p.His2036Gln |