Linked Data
ClinVar Variation Id:
1116
dbSNP Id:
rs141848292
ExAC:
15:44876255 G / A
gnomAD v2:
15-44876255-G-A
gnomAD v3:
15-44584057-G-A
gnomAD v4:
15-44584057-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44584057G>A , CM000677.2:g.44584057G>A | GRCh38 |
| NC_000015.9:g.44876255G>A , CM000677.1:g.44876255G>A | GRCh37 |
| NC_000015.8:g.42663547G>A | NCBI36 |
| NG_008885.1:g.84622C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000559511.6:c.5623C>T | ENSP00000453246.2:p.Gln1875Ter | |
| ENST00000561391.2:n.1851C>T | ||
| ENST00000682065.1:c.5479C>T | ENSP00000507025.1:p.Gln1827Ter | |
| ENST00000682460.1:c.*1880C>T | ENSP00000508334.1:n.*1880C>T | |
| ENST00000682495.1:c.*2115C>T | ENSP00000507166.1:n.*2115C>T | |
| ENST00000682669.1:c.5422C>T | ENSP00000507782.1:p.Gln1808Ter | |
| ENST00000683186.1:c.*2386C>T | ENSP00000507268.1:n.*2386C>T | |
| ENST00000683496.1:c.5623C>T | ENSP00000506968.1:p.Gln1875Ter | |
| ENST00000683734.1:c.5623C>T | ENSP00000508319.1:p.Gln1875Ter | |
| ENST00000683753.1:n.4669C>T | ||
| ENST00000684038.1:c.*2043C>T | ENSP00000507141.1:n.*2043C>T | |
| ENST00000684235.1:c.5623C>T | ENSP00000508295.1:p.Gln1875Ter | |
| ENST00000684676.1:c.5515+108C>T | ENSP00000506948.1:n.5515+108C>T | |
| ENST00000261866.12:c.5623C>T MANE Select | ENSP00000261866.7:p.Gln1875Ter | |
| ENST00000261866.11:c.5623C>T | ENSP00000261866.7:p.Gln1875Ter | |
| ENST00000427534.6:c.5623C>T | ENSP00000396110.2:p.Gln1875Ter | |
| ENST00000535302.6:c.5623C>T | ENSP00000445278.2:p.Gln1875Ter | |
| ENST00000558319.5:c.5623C>T | ENSP00000453599.1:p.Gln1875Ter | |
| ENST00000559511.5:c.471C>T | ||
| ENST00000559822.1:c.287+108C>T | ||
| NM_001160227.1:c.5623C>T | NP_001153699.1:p.Gln1875Ter | |
| NM_025137.3:c.5623C>T | NP_079413.3:p.Gln1875Ter | |
| XM_005254695.3:c.5365C>T | XP_005254752.1:p.Gln1789Ter | |
| XM_006720700.1:c.5479C>T | XP_006720763.1:p.Gln1827Ter | |
| XM_017022634.1:c.5623C>T | XP_016878123.1:p.Gln1875Ter | |
| XM_017022636.1:c.2500C>T | XP_016878125.1:p.Gln834Ter | |
| NM_025137.4:c.5623C>T MANE Select | NP_079413.3:p.Gln1875Ter | |
| NM_001160227.2:c.5623C>T | NP_001153699.1:p.Gln1875Ter |