Linked Data
ClinVar Variation Id:
466559
ClinVar RCV Id:
RCV000544170
RCV000765209
RCV000993048
RCV001848948
RCV002377093
RCV002467886
RCV002467887
dbSNP Id:
rs374057859
ExAC:
15:44859751 G / A
gnomAD v2:
15-44859751-G-A
gnomAD v3:
15-44567553-G-A
gnomAD v4:
15-44567553-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44567553G>A , CM000677.2:g.44567553G>A | GRCh38 |
| NC_000015.9:g.44859751G>A , CM000677.1:g.44859751G>A | GRCh37 |
| NC_000015.8:g.42647043G>A | NCBI36 |
| NG_008885.1:g.101126C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000558138.2:c.316C>T | ENSP00000453314.2:p.Arg106Cys | |
| ENST00000559511.6:c.6148C>T | ENSP00000453246.2:p.Arg2050Cys | |
| ENST00000682065.1:c.6481C>T | ENSP00000507025.1:p.Arg2161Cys | |
| ENST00000682460.1:c.*2882C>T | ENSP00000508334.1:n.*2882C>T | |
| ENST00000682495.1:c.*3117C>T | ENSP00000507166.1:n.*3117C>T | |
| ENST00000682669.1:c.6424C>T | ENSP00000507782.1:p.Arg2142Cys | |
| ENST00000683186.1:c.*3388C>T | ENSP00000507268.1:n.*3388C>T | |
| ENST00000683496.1:c.*267C>T | ENSP00000506968.1:n.*267C>T | |
| ENST00000683734.1:c.*575C>T | ENSP00000508319.1:n.*575C>T | |
| ENST00000683753.1:n.5671C>T | ||
| ENST00000684038.1:c.*3045C>T | ENSP00000507141.1:n.*3045C>T | |
| ENST00000684235.1:c.6625C>T | ENSP00000508295.1:p.Arg2209Cys | |
| ENST00000261866.12:c.6625C>T MANE Select | ENSP00000261866.7:p.Arg2209Cys | |
| ENST00000261866.11:c.6625C>T | ENSP00000261866.7:p.Arg2209Cys | |
| ENST00000427534.6:c.6625C>T | ENSP00000396110.2:p.Arg2209Cys | |
| ENST00000535302.6:c.6286C>T | ENSP00000445278.2:p.Arg2096Cys | |
| ENST00000558138.1:c.316C>T | ENSP00000453314.1:p.Arg106Cys | |
| ENST00000559347.1:n.454C>T | ||
| ENST00000559511.5:c.996C>T | ||
| ENST00000561268.5:n.315C>T | ||
| NM_001160227.1:c.6286C>T | NP_001153699.1:p.Arg2096Cys | |
| NM_025137.3:c.6625C>T | NP_079413.3:p.Arg2209Cys | |
| XM_005254695.3:c.6367C>T | XP_005254752.1:p.Arg2123Cys | |
| XM_006720700.1:c.6481C>T | XP_006720763.1:p.Arg2161Cys | |
| XM_017022634.1:c.6517C>T | XP_016878123.1:p.Arg2173Cys | |
| XM_017022636.1:c.3502C>T | XP_016878125.1:p.Arg1168Cys | |
| NM_025137.4:c.6625C>T MANE Select | NP_079413.3:p.Arg2209Cys | |
| NM_001160227.2:c.6286C>T | NP_001153699.1:p.Arg2096Cys |