Linked Data
ClinVar Variation Id:
571883
ClinVar RCV Id:
RCV000693135
dbSNP Id:
rs765761813
gnomAD v2:
1-173878783-G-A
gnomAD v3:
1-173909645-G-A
gnomAD v4:
1-173909645-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173909645G>A , CM000663.2:g.173909645G>A | GRCh38 |
| NC_000001.10:g.173878783G>A , CM000663.1:g.173878783G>A | GRCh37 |
| NC_000001.9:g.172145406G>A | NCBI36 |
| NG_012462.1:g.12734C>T , LRG_577:g.12734C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367698.4:c.1060C>T MANE Select | ENSP00000356671.3:p.Arg354Cys | |
| ENST00000367698.3:c.1060C>T | ENSP00000356671.3:p.Arg354Cys | |
| ENST00000617423.4:c.560-2152C>T | ENSP00000478688.1:n.560-2152C>T | |
| NM_000488.3:c.1060C>T , LRG_577t1:c.1060C>T | NP_000479.1:p.Arg354Cys | |
| XM_005245198.2:c.916C>T | XP_005245255.1:p.Arg306Cys | |
| NM_001365052.1:c.916C>T | NP_001351981.1:p.Arg306Cys | |
| NM_000488.4:c.1060C>T MANE Select | NP_000479.1:p.Arg354Cys | |
| NM_001365052.2:c.916C>T | NP_001351981.1:p.Arg306Cys | |
| NM_001386302.1:c.1183C>T | NP_001373231.1:p.Arg395Cys | |
| NM_001386303.1:c.1141C>T | NP_001373232.1:p.Arg381Cys | |
| NM_001386304.1:c.1039C>T | NP_001373233.1:p.Arg347Cys | |
| NM_001386305.1:c.1003C>T | NP_001373234.1:p.Arg335Cys | |
| NM_001386306.1:c.844C>T | NP_001373235.1:p.Arg282Cys |