Linked Data
ClinVar Variation Id:
418147
ClinVar RCV Id:
RCV000487047
RCV000787828
RCV001275643
RCV001247776
RCV001252198
RCV003449161
RCV003449162
RCV003449163
dbSNP Id:
rs145141811
ExAC:
1:197297616 C / G
gnomAD v2:
1-197297616-C-G
gnomAD v3:
1-197328486-C-G
gnomAD v4:
1-197328486-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197328486C>G , CM000663.2:g.197328486C>G | GRCh38 |
| NC_000001.10:g.197297616C>G , CM000663.1:g.197297616C>G | GRCh37 |
| NC_000001.9:g.195564239C>G | NCBI36 |
| NG_008483.1:g.65209C>G | |
| NG_008483.2:g.132025C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.135C>G MANE Select | ENSP00000356370.3:p.Cys45Trp | |
| ENST00000638467.1:c.135C>G | ENSP00000491102.1:p.Cys45Trp | |
| ENST00000367399.6:c.135C>G | ENSP00000356369.2:p.Cys45Trp | |
| ENST00000367400.7:c.135C>G | ENSP00000356370.3:p.Cys45Trp | |
| ENST00000475659.1:n.272C>G | ||
| ENST00000484075.5:c.135C>G | ENSP00000433932.1:p.Cys45Trp | |
| ENST00000535699.5:c.-73C>G | ENSP00000438786.1:n.-73C>G | |
| ENST00000538660.5:c.135C>G | ENSP00000438091.1:p.Cys45Trp | |
| NM_001193640.1:c.135C>G | NP_001180569.1:p.Cys45Trp | |
| NM_001257965.1:c.-73C>G | NP_001244894.1:n.-73C>G | |
| NM_001257966.1:c.135C>G | NP_001244895.1:p.Cys45Trp | |
| NM_201253.2:c.135C>G | NP_957705.1:p.Cys45Trp | |
| NR_047563.1:n.344C>G | ||
| NR_047564.1:n.344C>G | ||
| XM_011509365.1:c.135C>G | XP_011507667.1:p.Cys45Trp | |
| XM_011509366.1:c.135C>G | XP_011507668.1:p.Cys45Trp | |
| XM_011509367.1:c.135C>G | XP_011507669.1:p.Cys45Trp | |
| XM_011509368.1:c.71-15795C>G | XP_011507670.1:n.71-15795C>G | |
| XM_011509365.2:c.135C>G | XP_011507667.1:p.Cys45Trp | |
| XM_017000851.1:c.-569C>G | XP_016856340.1:n.-569C>G | |
| XM_017000852.1:c.135C>G | XP_016856341.1:p.Cys45Trp | |
| NM_201253.3:c.135C>G MANE Select | NP_957705.1:p.Cys45Trp | |
| NM_001193640.2:c.135C>G | NP_001180569.1:p.Cys45Trp | |
| NM_001257965.2:c.-73C>G | NP_001244894.1:n.-73C>G | |
| NR_047563.2:n.296C>G | ||
| NR_047564.2:n.296C>G | ||
| NM_001257966.2:c.135C>G | NP_001244895.1:p.Cys45Trp |