Linked Data
ClinVar Variation Id:
2150463
ClinVar RCV Id:
RCV003071883
dbSNP Id:
rs759393311
ExAC:
5:131728188 C / G
gnomAD v2:
5-131728188-C-G
gnomAD v3:
5-132392496-C-G
gnomAD v4:
5-132392496-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132392496C>G , CM000667.2:g.132392496C>G | GRCh38 |
| NC_000005.9:g.131728188C>G , CM000667.1:g.131728188C>G | GRCh37 |
| NC_000005.8:g.131756087C>G | NCBI36 |
| NG_008982.1:g.27788C>G | |
| NG_008982.2:g.27793C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000415928.6:c.1172C>G | ENSP00000388838.2:p.Ser391Cys | |
| ENST00000435065.7:c.1403C>G | ENSP00000402760.2:p.Ser468Cys | |
| ENST00000448810.6:c.*183C>G | ENSP00000401860.2:n.*183C>G | |
| ENST00000685543.1:n.1472C>G | ||
| ENST00000686757.1:c.*495C>G | ENSP00000510721.1:n.*495C>G | |
| ENST00000687740.1:n.4016C>G | ||
| ENST00000688151.1:n.2641C>G | ||
| ENST00000689271.1:c.1178C>G | ENSP00000510797.1:p.Ser393Cys | |
| ENST00000690900.1:c.*495C>G | ENSP00000510703.1:n.*495C>G | |
| ENST00000692212.1:n.4471C>G | ||
| ENST00000692355.1:c.584C>G | ||
| ENST00000692413.1:c.1313C>G | ENSP00000509374.1:p.Ser438Cys | |
| ENST00000692825.1:c.1399C>G | ENSP00000509447.1:n.1399C>G | |
| ENST00000693308.1:c.1379C>G | ENSP00000509770.1:p.Ser460Cys | |
| ENST00000693763.1:n.2491C>G | ||
| ENST00000245407.8:c.1331C>G MANE Select | ENSP00000245407.3:p.Ser444Cys | |
| ENST00000245407.7:c.1331C>G | ENSP00000245407.3:p.Ser444Cys | |
| ENST00000435065.6:c.1403C>G | ENSP00000402760.2:p.Ser468Cys | |
| ENST00000447841.5:c.175C>G | ||
| ENST00000448810.5:c.593C>G | ||
| ENST00000461013.5:n.8753C>G | ||
| ENST00000475308.1:n.2009C>G | ||
| ENST00000479605.5:n.434C>G | ||
| NM_001308122.1:c.1403C>G | NP_001295051.1:p.Ser468Cys | |
| NM_003060.3:c.1331C>G | NP_003051.1:p.Ser444Cys | |
| XM_011543590.1:c.713C>G | XP_011541892.1:p.Ser238Cys | |
| XR_948290.1:n.1457C>G | ||
| XM_011543590.2:c.713C>G | XP_011541892.1:p.Ser238Cys | |
| XM_017009778.2:c.803C>G | XP_016865267.1:p.Ser268Cys | |
| XR_001742215.1:n.1586C>G | ||
| XR_001742216.1:n.1605C>G | ||
| XR_427718.2:n.1691C>G | ||
| XR_948290.2:n.1457C>G | ||
| XR_948291.2:n.1685C>G | ||
| NM_003060.4:c.1331C>G MANE Select | NP_003051.1:p.Ser444Cys | |
| NM_001308122.2:c.1403C>G | NP_001295051.1:p.Ser468Cys |