Linked Data
ClinVar Variation Id:
946821
ClinVar RCV Id:
RCV001217762
dbSNP Id:
rs1579972564
gnomAD v3:
5-13735888-G-A
gnomAD v4:
5-13735888-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13735888G>A , CM000667.2:g.13735888G>A | GRCh38 |
| NC_000005.9:g.13735997G>A , CM000667.1:g.13735997G>A | GRCh37 |
| NC_000005.8:g.13788997G>A | NCBI36 |
| NG_013081.1:g.213593C>T | |
| NG_013081.2:g.213593C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.11500C>T MANE Select | ENSP00000265104.4:p.Arg3834Cys | |
| ENST00000681290.1:c.11455C>T | ENSP00000505288.1:p.Arg3819Cys | |
| ENST00000265104.4:c.11500C>T | ENSP00000265104.4:p.Arg3834Cys | |
| NM_001369.2:c.11500C>T | NP_001360.1:p.Arg3834Cys | |
| XM_005248262.2:c.11455C>T | XP_005248319.1:p.Arg3819Cys | |
| XM_005248262.3:c.11608C>T | XP_005248319.2:p.Arg3870Cys | |
| XM_017009177.1:c.11608C>T | XP_016864666.1:p.Arg3870Cys | |
| XM_017009178.1:c.10513C>T | XP_016864667.1:p.Arg3505Cys | |
| XM_017009179.2:c.10513C>T | XP_016864668.1:p.Arg3505Cys | |
| XM_017009180.1:c.11608C>T | XP_016864669.1:p.Arg3870Cys | |
| XM_017009181.1:c.11608C>T | XP_016864670.1:p.Arg3870Cys | |
| XM_017009182.1:c.11364C>T | XP_016864671.1:p.Cys3788= | |
| XM_017009185.1:c.6697C>T | XP_016864674.1:p.Arg2233Cys | |
| XM_017009186.1:c.6250C>T | XP_016864675.1:p.Arg2084Cys | |
| XM_017009188.1:c.5587C>T | XP_016864677.1:p.Arg1863Cys | |
| XM_024454388.1:c.10513C>T | XP_024310156.1:p.Arg3505Cys | |
| XM_024454389.1:c.10102C>T | XP_024310157.1:p.Arg3368Cys | |
| NM_001369.3:c.11500C>T MANE Select | NP_001360.1:p.Arg3834Cys |