Linked Data
ClinVar Variation Id:
68198
ClinVar RCV Id:
RCV000059030
dbSNP Id:
rs281875279
gnomAD v4:
4-186276373-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186276373G>C , CM000666.2:g.186276373G>C | GRCh38 |
| NC_000004.11:g.187197527G>C , CM000666.1:g.187197527G>C | GRCh37 |
| NC_000004.10:g.187434521G>C | NCBI36 |
| NG_008051.1:g.15410G>C , LRG_583:g.15410G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000403665.7:c.738G>C MANE Select | ENSP00000384957.2:p.Trp246Cys | |
| ENST00000264692.8:c.576G>C | ENSP00000264692.5:p.Trp192Cys | |
| ENST00000403665.6:c.738G>C | ENSP00000384957.2:p.Trp246Cys | |
| ENST00000452239.1:c.185G>C | ||
| NM_000128.3:c.738G>C , LRG_583t1:c.738G>C | NP_000119.1:p.Trp246Cys | |
| XM_005262821.2:c.738G>C | XP_005262878.1:p.Trp246Cys | |
| XM_005262822.2:c.738G>C | XP_005262879.1:p.Trp246Cys | |
| XM_005262823.2:c.485+2098G>C | XP_005262880.1:n.485+2098G>C | |
| XM_005262824.1:c.738G>C | XP_005262881.1:p.Trp246Cys | |
| XM_006714137.1:c.738G>C | XP_006714200.1:p.Trp246Cys | |
| XR_938706.1:n.1090G>C | ||
| XR_938707.1:n.1090G>C | ||
| XM_005262821.4:c.738G>C | XP_005262878.1:p.Trp246Cys | |
| XM_005262822.4:c.738G>C | XP_005262879.1:p.Trp246Cys | |
| XM_005262823.4:c.485+2098G>C | XP_005262880.1:n.485+2098G>C | |
| XM_006714137.3:c.738G>C | XP_006714200.1:p.Trp246Cys | |
| XM_017007884.2:c.738G>C | XP_016863373.1:p.Trp246Cys | |
| XM_017007885.2:c.738G>C | XP_016863374.1:p.Trp246Cys | |
| XM_017007886.2:c.738G>C | XP_016863375.1:p.Trp246Cys | |
| XR_001741172.2:n.1071G>C | ||
| NM_000128.4:c.738G>C MANE Select | NP_000119.1:p.Trp246Cys |