Linked Data
dbSNP Id:
rs1249843918
gnomAD v2:
1-115226956-G-C
gnomAD v3:
1-114684335-G-C
gnomAD v4:
1-114684335-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114684335G>C , CM000663.2:g.114684335G>C | GRCh38 |
| NC_000001.10:g.115226956G>C , CM000663.1:g.115226956G>C | GRCh37 |
| NC_000001.9:g.115028479G>C | NCBI36 |
| NG_008012.1:g.16221C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369538.4:c.399C>G | ENSP00000358551.4:p.Cys133Trp | |
| ENST00000520113.7:c.411C>G MANE Select | ENSP00000430075.3:p.Cys137Trp | |
| ENST00000637080.1:c.414C>G | ENSP00000489753.1:p.Cys138Trp | |
| ENST00000639077.1:n.76C>G | ||
| ENST00000369538.3:c.498C>G | ENSP00000358551.3:p.Cys166Trp | |
| ENST00000485564.3:n.285C>G | ||
| ENST00000520113.6:c.510C>G | ENSP00000430075.2:p.Cys170Trp | |
| NM_000036.2:c.510C>G | NP_000027.2:p.Cys170Trp | |
| NM_001172626.1:c.498C>G | NP_001166097.1:p.Cys166Trp | |
| NM_000036.3:c.411C>G MANE Select | NP_000027.3:p.Cys137Trp | |
| NM_001172626.2:c.399C>G | NP_001166097.2:p.Cys133Trp |