Linked Data
ClinVar Variation Id:
421848
ClinVar RCV Id:
RCV000481931
dbSNP Id:
rs1064795400
gnomAD v2:
17-16137311-C-T
gnomAD v4:
17-16233997-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16233997C>T , CM000679.2:g.16233997C>T | GRCh38 |
| NC_000017.10:g.16137311C>T , CM000679.1:g.16137311C>T | GRCh37 |
| NC_000017.9:g.16078036C>T | NCBI36 |
| NG_032651.1:g.21803C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000225609.10:c.262C>T MANE Select | ENSP00000225609.5:p.Arg88Cys | |
| ENST00000225609.9:c.262C>T | ENSP00000225609.5:p.Arg88Cys | |
| ENST00000395844.8:c.262C>T | ENSP00000379185.3:p.Arg88Cys | |
| ENST00000470116.2:c.262C>T | ENSP00000463754.1:p.Arg88Cys | |
| ENST00000477745.5:n.260C>T | ||
| ENST00000489009.1:n.252C>T | ||
| ENST00000498772.6:n.279C>T | ||
| ENST00000581006.5:c.262C>T | ENSP00000462432.1:p.Arg88Cys | |
| ENST00000584797.5:c.262C>T | ENSP00000463540.1:p.Arg88Cys | |
| ENST00000585034.5:c.235+16536C>T | ENSP00000464424.1:n.235+16536C>T | |
| ENST00000607144.4:n.298C>T | ||
| NM_004278.3:c.262C>T | NP_004269.1:p.Arg88Cys | |
| XM_011524080.1:c.262C>T | XP_011522382.1:p.Arg88Cys | |
| XR_243571.2:n.280C>T | ||
| XR_429826.2:n.280C>T | ||
| XM_011524080.2:c.262C>T | XP_011522382.1:p.Arg88Cys | |
| XM_017025349.1:c.262C>T | XP_016880838.1:p.Arg88Cys | |
| XM_017025350.1:c.262C>T | XP_016880839.1:p.Arg88Cys | |
| XM_017025351.1:c.262C>T | XP_016880840.1:p.Arg88Cys | |
| XM_017025352.1:c.262C>T | XP_016880841.1:p.Arg88Cys | |
| XM_017025353.1:c.262C>T | XP_016880842.1:p.Arg88Cys | |
| XM_017025354.1:c.262C>T | XP_016880843.1:p.Arg88Cys | |
| XM_017025355.1:c.262C>T | XP_016880844.1:p.Arg88Cys | |
| XM_017025356.1:c.262C>T | XP_016880845.1:p.Arg88Cys | |
| NM_004278.4:c.262C>T MANE Select | NP_004269.1:p.Arg88Cys |