Linked Data
ClinVar Variation Id:
417028
dbSNP Id:
rs376950905
ExAC:
7:91694613 C / T
gnomAD v2:
7-91694613-C-T
gnomAD v3:
7-92065299-C-T
gnomAD v4:
7-92065299-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92065299C>T , CM000669.2:g.92065299C>T | GRCh38 |
| NC_000007.13:g.91694613C>T , CM000669.1:g.91694613C>T | GRCh37 |
| NC_000007.12:g.91532549C>T | NCBI36 |
| NG_011623.1:g.129425C>T , LRG_331:g.129425C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356239.8:c.6046C>T MANE Select | ENSP00000348573.3:p.Arg2016Cys | |
| ENST00000359028.7:c.6142C>T | ENSP00000351922.4:p.Arg2048Cys | |
| ENST00000491695.2:c.691C>T | ENSP00000494626.2:p.Arg231Cys | |
| ENST00000674381.2:c.*5775C>T | ENSP00000501536.2:n.*5775C>T | |
| ENST00000679448.1:c.6046C>T | ENSP00000505889.1:p.Arg2016Cys | |
| ENST00000679457.1:c.6046C>T | ENSP00000505450.1:p.Arg2016Cys | |
| ENST00000679474.1:n.6268C>T | ||
| ENST00000679521.1:c.5992C>T | ENSP00000505456.1:p.Arg1998Cys | |
| ENST00000679554.1:c.*5831C>T | ENSP00000506415.1:n.*5831C>T | |
| ENST00000679722.1:n.6268C>T | ||
| ENST00000679821.1:c.5788C>T | ENSP00000506040.1:p.Arg1930Cys | |
| ENST00000680047.1:n.6268C>T | ||
| ENST00000680072.1:c.6046C>T | ENSP00000506581.1:p.Arg2016Cys | |
| ENST00000680074.1:n.9012C>T | ||
| ENST00000680181.1:c.5953C>T | ENSP00000505548.1:p.Arg1985Cys | |
| ENST00000680513.1:c.5905C>T | ENSP00000505284.1:p.Arg1969Cys | |
| ENST00000680534.1:c.6085C>T | ENSP00000506674.1:p.Arg2029Cys | |
| ENST00000680766.1:c.6046C>T | ENSP00000505204.1:p.Arg2016Cys | |
| ENST00000680952.1:c.6046C>T | ENSP00000506407.1:p.Arg2016Cys | |
| ENST00000681412.1:c.6046C>T | ENSP00000506486.1:p.Arg2016Cys | |
| ENST00000681722.1:c.6046C>T | ENSP00000506566.1:p.Arg2016Cys | |
| ENST00000356239.7:c.6046C>T | ENSP00000348573.3:p.Arg2016Cys | |
| ENST00000358100.6:c.5905C>T | ENSP00000350813.3:p.Arg1969Cys | |
| ENST00000359028.6:c.6079C>T | ENSP00000351922.3:p.Arg2027Cys | |
| ENST00000491695.1:n.1234C>T | ||
| NM_005751.4:c.6046C>T , LRG_331t1:c.6046C>T | NP_005742.4:p.Arg2016Cys | |
| NM_147185.2:c.6046C>T | NP_671714.1:p.Arg2016Cys | |
| XM_006715827.1:c.5905C>T | XP_006715890.1:p.Arg1969Cys | |
| XM_011515709.1:c.6217C>T | XP_011514011.1:p.Arg2073Cys | |
| XM_011515710.1:c.6217C>T | XP_011514012.1:p.Arg2073Cys | |
| XM_011515711.1:c.6181C>T | XP_011514013.1:p.Arg2061Cys | |
| XM_011515712.1:c.6178C>T | XP_011514014.1:p.Arg2060Cys | |
| XM_011515713.1:c.6163C>T | XP_011514015.1:p.Arg2055Cys | |
| XM_011515714.1:c.6178C>T | XP_011514016.1:p.Arg2060Cys | |
| XM_011515716.1:c.6121C>T | XP_011514018.1:p.Arg2041Cys | |
| XM_011515717.1:c.6076C>T | XP_011514019.1:p.Arg2026Cys | |
| XM_011515718.1:c.6082C>T | XP_011514020.1:p.Arg2028Cys | |
| XM_011515719.1:c.6082C>T | XP_011514021.1:p.Arg2028Cys | |
| XM_011515720.1:c.5941C>T | XP_011514022.1:p.Arg1981Cys | |
| XM_011515721.1:c.730C>T | XP_011514023.1:p.Arg244Cys | |
| XM_011515722.1:c.691C>T | XP_011514024.1:p.Arg231Cys | |
| XM_017011642.2:c.6181C>T | XP_016867131.1:p.Arg2061Cys | |
| XM_017011643.2:c.6142C>T | XP_016867132.1:p.Arg2048Cys | |
| XM_017011644.2:c.6181C>T | XP_016867133.1:p.Arg2061Cys | |
| XM_017011645.2:c.6127C>T | XP_016867134.1:p.Arg2043Cys | |
| XM_017011646.2:c.6142C>T | XP_016867135.1:p.Arg2048Cys | |
| XM_017011647.2:c.6088C>T | XP_016867136.1:p.Arg2030Cys | |
| XM_017011648.2:c.6085C>T | XP_016867137.1:p.Arg2029Cys | |
| XM_017011649.2:c.6142C>T | XP_016867138.1:p.Arg2048Cys | |
| XM_017011650.2:c.6046C>T | XP_016867139.1:p.Arg2016Cys | |
| XM_017011651.2:c.6040C>T | XP_016867140.1:p.Arg2014Cys | |
| XM_017011652.2:c.6181C>T | XP_016867141.1:p.Arg2061Cys | |
| XM_017011653.2:c.5953C>T | XP_016867142.1:p.Arg1985Cys | |
| XM_017011654.2:c.5905C>T | XP_016867143.1:p.Arg1969Cys | |
| XM_017011655.2:c.5809C>T | XP_016867144.1:p.Arg1937Cys | |
| XM_017011656.2:c.5809C>T | XP_016867145.1:p.Arg1937Cys | |
| XM_017011657.2:c.1846C>T | XP_016867146.1:p.Arg616Cys | |
| XM_017011658.2:c.730C>T | XP_016867147.1:p.Arg244Cys | |
| XM_017011659.2:c.691C>T | XP_016867148.1:p.Arg231Cys | |
| XM_017011660.2:c.691C>T | XP_016867149.1:p.Arg231Cys | |
| XM_024446631.1:c.5944C>T | XP_024302399.1:p.Arg1982Cys | |
| NM_147185.3:c.6046C>T | NP_671714.1:p.Arg2016Cys | |
| NM_001379277.1:c.691C>T | NP_001366206.1:p.Arg231Cys | |
| NM_005751.5:c.6046C>T MANE Select | NP_005742.4:p.Arg2016Cys |