Linked Data
ClinVar Variation Id:
17574
ClinVar RCV Id:
RCV000019135
dbSNP Id:
rs121912790
PubMed:
PMID:16685649
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1753593C>G , CM000673.2:g.1753593C>G | GRCh38 |
| NC_000011.9:g.1774823C>G , CM000673.1:g.1774823C>G | GRCh37 |
| NC_000011.8:g.1731399C>G | NCBI36 |
| NG_008655.1:g.15400G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236671.7:c.1149G>C MANE Select | ENSP00000236671.2:p.Trp383Cys | |
| ENST00000367196.4:c.1044G>C | ENSP00000356164.4:p.Trp348Cys | |
| ENST00000427721.3:c.574G>C | ||
| ENST00000429746.2:c.1044G>C | ENSP00000402586.2:p.Trp348Cys | |
| ENST00000433655.6:c.*315G>C | ENSP00000404902.1:n.*315G>C | |
| ENST00000438213.6:c.1266G>C | ENSP00000415036.2:p.Trp422Cys | |
| ENST00000636397.1:c.1071+210G>C | ENSP00000489910.1:n.1071+210G>C | |
| ENST00000636571.1:c.1128G>C | ENSP00000490770.1:p.Trp376Cys | |
| ENST00000636579.1:c.72+210G>C | ENSP00000490489.1:n.72+210G>C | |
| ENST00000636615.1:c.1071+210G>C | ENSP00000490014.1:n.1071+210G>C | |
| ENST00000636843.1:c.1143G>C | ENSP00000490897.1:p.Trp381Cys | |
| ENST00000637158.1:n.747G>C | ||
| ENST00000637381.2:n.3577G>C | ||
| ENST00000637387.1:c.1128G>C | ENSP00000490598.1:p.Trp376Cys | |
| ENST00000637815.2:c.1131G>C | ENSP00000490344.1:p.Trp377Cys | |
| ENST00000637915.1:c.1140G>C | ENSP00000490471.1:p.Trp380Cys | |
| ENST00000637937.1:n.457G>C | ||
| ENST00000678991.1:c.*1010G>C | ENSP00000503019.1:n.*1010G>C | |
| ENST00000236671.6:c.1149G>C | ENSP00000236671.2:p.Trp383Cys | |
| ENST00000427721.2:c.471+210G>C | ENSP00000415840.2:n.471+210G>C | |
| ENST00000429746.1:c.480G>C | ENSP00000402586.1:p.Trp160Cys | |
| ENST00000433655.5:c.*315G>C | ENSP00000404902.1:n.*315G>C | |
| NM_001909.4:c.1149G>C | NP_001900.1:p.Trp383Cys | |
| NM_001909.5:c.1149G>C MANE Select | NP_001900.1:p.Trp383Cys |