Linked Data
ClinVar Variation Id:
798091
ClinVar RCV Id:
RCV000981589
dbSNP Id:
rs1595824110
MyVariant Identifiers:
chr15:g.44862828A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44570630A>G , CM000677.2:g.44570630A>G | GRCh38 |
| NC_000015.9:g.44862828A>G , CM000677.1:g.44862828A>G | GRCh37 |
| NC_000015.8:g.42650120A>G | NCBI36 |
| NG_008885.1:g.98049T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558138.2:c.171T>C | ENSP00000453314.2:p.His57= | |
| ENST00000559511.6:c.5895T>C | ENSP00000453246.2:p.His1965= | |
| ENST00000682065.1:c.6228T>C | ENSP00000507025.1:p.His2076= | |
| ENST00000682460.1:c.*2629T>C | ENSP00000508334.1:n.*2629T>C | |
| ENST00000682495.1:c.*2864T>C | ENSP00000507166.1:n.*2864T>C | |
| ENST00000682669.1:c.6171T>C | ENSP00000507782.1:p.His2057= | |
| ENST00000683186.1:c.*3135T>C | ENSP00000507268.1:n.*3135T>C | |
| ENST00000683496.1:c.*14T>C | ENSP00000506968.1:n.*14T>C | |
| ENST00000683734.1:c.*322T>C | ENSP00000508319.1:n.*322T>C | |
| ENST00000683753.1:n.5418T>C | ||
| ENST00000684038.1:c.*2792T>C | ENSP00000507141.1:n.*2792T>C | |
| ENST00000684235.1:c.6372T>C | ENSP00000508295.1:p.His2124= | |
| ENST00000261866.12:c.6372T>C MANE Select | ENSP00000261866.7:p.His2124= | |
| ENST00000261866.11:c.6372T>C | ENSP00000261866.7:p.His2124= | |
| ENST00000427534.6:c.6372T>C | ENSP00000396110.2:p.His2124= | |
| ENST00000535302.6:c.6033T>C | ENSP00000445278.2:p.His2011= | |
| ENST00000558138.1:c.171T>C | ENSP00000453314.1:p.His57= | |
| ENST00000559347.1:n.201T>C | ||
| ENST00000559511.5:c.743T>C | ||
| ENST00000559933.1:n.441T>C | ||
| ENST00000561268.5:n.275+2053T>C | ||
| NM_001160227.1:c.6033T>C | NP_001153699.1:p.His2011= | |
| NM_025137.3:c.6372T>C | NP_079413.3:p.His2124= | |
| XM_005254695.3:c.6114T>C | XP_005254752.1:p.His2038= | |
| XM_006720700.1:c.6228T>C | XP_006720763.1:p.His2076= | |
| XM_017022634.1:c.6372T>C | XP_016878123.1:p.His2124= | |
| XM_017022636.1:c.3249T>C | XP_016878125.1:p.His1083= | |
| NM_025137.4:c.6372T>C MANE Select | NP_079413.3:p.His2124= | |
| NM_001160227.2:c.6033T>C | NP_001153699.1:p.His2011= |