Linked Data
ClinVar Variation Id:
1943357
ClinVar RCV Id:
RCV002662902
dbSNP Id:
rs1307220437
gnomAD v2:
14-21868725-G-A
gnomAD v3:
14-21400566-G-A
gnomAD v4:
14-21400566-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21400566G>A , CM000676.2:g.21400566G>A | GRCh38 |
| NC_000014.8:g.21868725G>A , CM000676.1:g.21868725G>A | GRCh37 |
| NC_000014.7:g.20938565G>A | NCBI36 |
| NG_021249.1:g.41733C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000430710.8:c.3580C>T | ENSP00000406288.3:p.Arg1194Cys | |
| ENST00000555935.2:c.2093C>T | ||
| ENST00000555962.6:c.265-259C>T | ENSP00000495174.1:n.265-259C>T | |
| ENST00000557364.6:c.4417C>T | ENSP00000451601.1:p.Arg1473Cys | |
| ENST00000643469.1:c.4417C>T | ENSP00000495070.1:p.Arg1473Cys | |
| ENST00000645206.1:n.2931C>T | ||
| ENST00000645929.1:c.3580C>T | ENSP00000494402.1:p.Arg1194Cys | |
| ENST00000646340.1:c.4423C>T | ENSP00000496730.1:p.Arg1475Cys | |
| ENST00000646558.1:n.1233C>T | ||
| ENST00000646647.2:c.4417C>T MANE Select | ENSP00000495240.1:p.Arg1473Cys | |
| ENST00000399982.6:c.4417C>T | ENSP00000382863.2:p.Arg1473Cys | |
| ENST00000430710.7:c.3580C>T | ENSP00000406288.3:p.Arg1194Cys | |
| ENST00000555935.1:c.2093C>T | ||
| ENST00000555962.5:n.525-259C>T | ||
| ENST00000557364.5:c.4417C>T | ENSP00000451601.1:p.Arg1473Cys | |
| NM_001170629.1:c.4417C>T | NP_001164100.1:p.Arg1473Cys | |
| NM_020920.3:c.3580C>T | NP_065971.2:p.Arg1194Cys | |
| NM_001170629.2:c.4417C>T MANE Select | NP_001164100.1:p.Arg1473Cys | |
| NM_020920.4:c.3580C>T | NP_065971.2:p.Arg1194Cys |