Linked Data
ClinVar Variation Id:
91870
ClinVar RCV Id:
RCV000143844
dbSNP Id:
rs587779369
gnomAD v2:
1-115220010-G-C
gnomAD v4:
1-114677389-G-C
PubMed:
PMID:25155876
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114677389G>C , CM000663.2:g.114677389G>C | GRCh38 |
| NC_000001.10:g.115220010G>C , CM000663.1:g.115220010G>C | GRCh37 |
| NC_000001.9:g.115021533G>C | NCBI36 |
| NG_008012.1:g.23167C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369538.4:c.1338C>G | ENSP00000358551.4:p.Cys446Trp | |
| ENST00000520113.7:c.1350C>G MANE Select | ENSP00000430075.3:p.Cys450Trp | |
| ENST00000637080.1:c.1133C>G | ENSP00000489753.1:n.1133C>G | |
| ENST00000639077.1:n.1015C>G | ||
| ENST00000369538.3:c.1437C>G | ENSP00000358551.3:p.Cys479Trp | |
| ENST00000520113.6:c.1449C>G | ENSP00000430075.2:p.Cys483Trp | |
| NM_000036.2:c.1449C>G | NP_000027.2:p.Cys483Trp | |
| NM_001172626.1:c.1437C>G | NP_001166097.1:p.Cys479Trp | |
| NM_000036.3:c.1350C>G MANE Select | NP_000027.3:p.Cys450Trp | |
| NM_001172626.2:c.1338C>G | NP_001166097.2:p.Cys446Trp |