Linked Data
ClinVar Variation Id:
1703826
ClinVar RCV Id:
RCV002280985
dbSNP Id:
rs1423347302
gnomAD v4:
4-186284094-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186284094T>C , CM000666.2:g.186284094T>C | GRCh38 |
| NC_000004.11:g.187205248T>C , CM000666.1:g.187205248T>C | GRCh37 |
| NC_000004.10:g.187442242T>C | NCBI36 |
| NG_008051.1:g.23131T>C , LRG_583:g.23131T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.1138T>C MANE Select | ENSP00000384957.2:p.Cys380Arg | |
| ENST00000264692.8:c.976T>C | ENSP00000264692.5:p.Cys326Arg | |
| ENST00000403665.6:c.1138T>C | ENSP00000384957.2:p.Cys380Arg | |
| NM_000128.3:c.1138T>C , LRG_583t1:c.1138T>C | NP_000119.1:p.Cys380Arg | |
| XM_005262821.2:c.1141T>C | XP_005262878.1:p.Cys381Arg | |
| XM_005262822.2:c.1141T>C | XP_005262879.1:p.Cys381Arg | |
| XM_005262823.2:c.871T>C | XP_005262880.1:p.Cys291Arg | |
| XM_005262824.1:c.1141T>C | XP_005262881.1:p.Cys381Arg | |
| XM_006714137.1:c.1093T>C | XP_006714200.1:p.Cys365Arg | |
| XR_938706.1:n.1546T>C | ||
| XR_938707.1:n.1546T>C | ||
| XM_005262821.4:c.1141T>C | XP_005262878.1:p.Cys381Arg | |
| XM_005262822.4:c.1141T>C | XP_005262879.1:p.Cys381Arg | |
| XM_005262823.4:c.871T>C | XP_005262880.1:p.Cys291Arg | |
| XM_006714137.3:c.1093T>C | XP_006714200.1:p.Cys365Arg | |
| XM_017007884.2:c.*2110T>C | XP_016863373.1:n.*2110T>C | |
| XM_017007885.2:c.*6T>C | XP_016863374.1:n.*6T>C | |
| XR_001741172.2:n.1612T>C | ||
| NM_000128.4:c.1138T>C MANE Select | NP_000119.1:p.Cys380Arg |