Linked Data
ClinVar Variation Id:
188760
ClinVar RCV Id:
RCV000169077
dbSNP Id:
rs771896253
ExAC:
4:187205296 C / T
gnomAD v2:
4-187205296-C-T
gnomAD v3:
4-186284142-C-T
gnomAD v4:
4-186284142-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186284142C>T , CM000666.2:g.186284142C>T | GRCh38 |
| NC_000004.11:g.187205296C>T , CM000666.1:g.187205296C>T | GRCh37 |
| NC_000004.10:g.187442290C>T | NCBI36 |
| NG_008051.1:g.23179C>T , LRG_583:g.23179C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.1186C>T MANE Select | ENSP00000384957.2:p.Arg396Cys | |
| ENST00000264692.8:c.1024C>T | ENSP00000264692.5:p.Arg342Cys | |
| ENST00000403665.6:c.1186C>T | ENSP00000384957.2:p.Arg396Cys | |
| NM_000128.3:c.1186C>T , LRG_583t1:c.1186C>T | NP_000119.1:p.Arg396Cys | |
| XM_005262821.2:c.1189C>T | XP_005262878.1:p.Arg397Cys | |
| XM_005262822.2:c.1189C>T | XP_005262879.1:p.Arg397Cys | |
| XM_005262823.2:c.919C>T | XP_005262880.1:p.Arg307Cys | |
| XM_005262824.1:c.1189C>T | XP_005262881.1:p.Arg397Cys | |
| XM_006714137.1:c.1141C>T | XP_006714200.1:p.Arg381Cys | |
| XR_938706.1:n.1594C>T | ||
| XR_938707.1:n.1594C>T | ||
| XM_005262821.4:c.1189C>T | XP_005262878.1:p.Arg397Cys | |
| XM_005262822.4:c.1189C>T | XP_005262879.1:p.Arg397Cys | |
| XM_005262823.4:c.919C>T | XP_005262880.1:p.Arg307Cys | |
| XM_006714137.3:c.1141C>T | XP_006714200.1:p.Arg381Cys | |
| XM_017007884.2:c.*2158C>T | XP_016863373.1:n.*2158C>T | |
| XM_017007885.2:c.*54C>T | XP_016863374.1:n.*54C>T | |
| XR_001741172.2:n.1660C>T | ||
| NM_000128.4:c.1186C>T MANE Select | NP_000119.1:p.Arg396Cys |