Linked Data
ClinVar Variation Id:
2735787
ClinVar RCV Id:
RCV003557692
dbSNP Id:
rs1213764655
gnomAD v2:
11-128709899-C-A
gnomAD v3:
11-128840004-C-A
gnomAD v4:
11-128840004-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128840004C>A , CM000673.2:g.128840004C>A | GRCh38 |
| NC_000011.9:g.128709899C>A , CM000673.1:g.128709899C>A | GRCh37 |
| NC_000011.8:g.128215109C>A | NCBI36 |
| NG_009379.1:g.32370G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392666.6:c.240G>T MANE Select | ENSP00000376434.1:p.Trp80Cys | |
| ENST00000324003.3:c.240G>T | ENSP00000316136.3:p.Trp80Cys | |
| ENST00000324036.7:c.240G>T | ENSP00000316233.3:p.Trp80Cys | |
| ENST00000392664.2:c.297G>T | ENSP00000376432.2:p.Trp99Cys | |
| ENST00000392665.6:c.240G>T | ENSP00000376433.2:p.Trp80Cys | |
| ENST00000392666.5:c.240G>T | ENSP00000376434.1:p.Trp80Cys | |
| ENST00000440599.6:c.240G>T | ENSP00000406320.2:p.Trp80Cys | |
| NM_000220.4:c.297G>T | NP_000211.1:p.Trp99Cys | |
| NM_153764.2:c.240G>T | NP_722448.1:p.Trp80Cys | |
| NM_153765.2:c.291G>T | NP_722449.3:p.Trp97Cys | |
| NM_153766.2:c.240G>T | NP_722450.1:p.Trp80Cys | |
| NM_153767.3:c.240G>T | NP_722451.1:p.Trp80Cys | |
| NM_000220.6:c.297G>T | NP_000211.1:p.Trp99Cys | |
| NM_153764.3:c.240G>T | NP_722448.1:p.Trp80Cys | |
| NM_153765.3:c.291G>T | NP_722449.3:p.Trp97Cys | |
| NM_153766.3:c.240G>T MANE Select | NP_722450.1:p.Trp80Cys | |
| NM_153767.4:c.240G>T | NP_722451.1:p.Trp80Cys |