Linked Data
ClinVar Variation Id:
448469
dbSNP Id:
rs201918221
ExAC:
15:44855490 T / A
gnomAD v2:
15-44855490-T-A
gnomAD v3:
15-44563292-T-A
gnomAD v4:
15-44563292-T-A
COSMIC:
COSM6051800
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44563292T>A , CM000677.2:g.44563292T>A | GRCh38 |
| NC_000015.9:g.44855490T>A , CM000677.1:g.44855490T>A | GRCh37 |
| NC_000015.8:g.42642782T>A | NCBI36 |
| NG_008885.1:g.105387A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558138.2:c.852A>T | ENSP00000453314.2:p.Gln284His | |
| ENST00000559511.6:c.6684A>T | ENSP00000453246.2:p.Gln2228His | |
| ENST00000682065.1:c.7017A>T | ENSP00000507025.1:p.Gln2339His | |
| ENST00000682460.1:c.*3418A>T | ENSP00000508334.1:n.*3418A>T | |
| ENST00000682495.1:c.*3653A>T | ENSP00000507166.1:n.*3653A>T | |
| ENST00000682669.1:c.6960A>T | ENSP00000507782.1:p.Gln2320His | |
| ENST00000683186.1:c.*3924A>T | ENSP00000507268.1:n.*3924A>T | |
| ENST00000683496.1:c.*803A>T | ENSP00000506968.1:n.*803A>T | |
| ENST00000683734.1:c.*1111A>T | ENSP00000508319.1:n.*1111A>T | |
| ENST00000683753.1:n.6207A>T | ||
| ENST00000684038.1:c.*3581A>T | ENSP00000507141.1:n.*3581A>T | |
| ENST00000684235.1:c.7151+1255A>T | ENSP00000508295.1:n.7151+1255A>T | |
| ENST00000261866.12:c.7161A>T MANE Select | ENSP00000261866.7:p.Gln2387His | |
| ENST00000261866.11:c.7161A>T | ENSP00000261866.7:p.Gln2387His | |
| ENST00000427534.6:c.6764A>T | ENSP00000396110.2:p.Asn2255Ile | |
| ENST00000535302.6:c.6822A>T | ENSP00000445278.2:p.Gln2274His | |
| ENST00000559511.5:c.1532A>T | ||
| NM_001160227.1:c.6822A>T | NP_001153699.1:p.Gln2274His | |
| NM_025137.3:c.7161A>T | NP_079413.3:p.Gln2387His | |
| XM_005254695.3:c.6903A>T | XP_005254752.1:p.Gln2301His | |
| XM_006720700.1:c.7017A>T | XP_006720763.1:p.Gln2339His | |
| XM_017022634.1:c.7053A>T | XP_016878123.1:p.Gln2351His | |
| XM_017022636.1:c.4038A>T | XP_016878125.1:p.Gln1346His | |
| NM_025137.4:c.7161A>T MANE Select | NP_079413.3:p.Gln2387His | |
| NM_001160227.2:c.6822A>T | NP_001153699.1:p.Gln2274His |