Linked Data
ClinVar Variation Id:
1324363
ClinVar RCV Id:
RCV001781068
dbSNP Id:
rs369435407
ExAC:
4:187206814 C / T
gnomAD v2:
4-187206814-C-T
gnomAD v3:
4-186285660-C-T
gnomAD v4:
4-186285660-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186285660C>T , CM000666.2:g.186285660C>T | GRCh38 |
| NC_000004.11:g.187206814C>T , CM000666.1:g.187206814C>T | GRCh37 |
| NC_000004.10:g.187443808C>T | NCBI36 |
| NG_008051.1:g.24697C>T , LRG_583:g.24697C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.1327C>T MANE Select | ENSP00000384957.2:p.Arg443Cys | |
| ENST00000264691.4:c.23C>T | ||
| ENST00000264692.8:c.1165C>T | ENSP00000264692.5:p.Arg389Cys | |
| ENST00000403665.6:c.1327C>T | ENSP00000384957.2:p.Arg443Cys | |
| NM_000128.3:c.1327C>T , LRG_583t1:c.1327C>T | NP_000119.1:p.Arg443Cys | |
| XM_005262821.2:c.1330C>T | XP_005262878.1:p.Arg444Cys | |
| XM_005262822.2:c.1330C>T | XP_005262879.1:p.Arg444Cys | |
| XM_005262823.2:c.1060C>T | XP_005262880.1:p.Arg354Cys | |
| XM_005262824.1:c.1330C>T | XP_005262881.1:p.Arg444Cys | |
| XM_006714137.1:c.1282C>T | XP_006714200.1:p.Arg428Cys | |
| XR_938706.1:n.1735C>T | ||
| XR_938707.1:n.1735C>T | ||
| XM_005262821.4:c.1330C>T | XP_005262878.1:p.Arg444Cys | |
| XM_005262822.4:c.1330C>T | XP_005262879.1:p.Arg444Cys | |
| XM_005262823.4:c.1060C>T | XP_005262880.1:p.Arg354Cys | |
| XM_006714137.3:c.1282C>T | XP_006714200.1:p.Arg428Cys | |
| XR_001741172.2:n.1801C>T | ||
| NM_000128.4:c.1327C>T MANE Select | NP_000119.1:p.Arg443Cys |