Linked Data
ClinVar Variation Id:
412019
dbSNP Id:
rs144269839
ExAC:
7:91674410 C / T
gnomAD v2:
7-91674410-C-T
gnomAD v3:
7-92045096-C-T
gnomAD v4:
7-92045096-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92045096C>T , CM000669.2:g.92045096C>T | GRCh38 |
| NC_000007.13:g.91674410C>T , CM000669.1:g.91674410C>T | GRCh37 |
| NC_000007.12:g.91512346C>T | NCBI36 |
| NG_011623.1:g.109222C>T , LRG_331:g.109222C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356239.8:c.5251C>T MANE Select | ENSP00000348573.3:p.Arg1751Cys | |
| ENST00000359028.7:c.5347C>T | ENSP00000351922.4:p.Arg1783Cys | |
| ENST00000674381.2:c.*4980C>T | ENSP00000501536.2:n.*4980C>T | |
| ENST00000679448.1:c.5251C>T | ENSP00000505889.1:p.Arg1751Cys | |
| ENST00000679457.1:c.5251C>T | ENSP00000505450.1:p.Arg1751Cys | |
| ENST00000679474.1:n.5473C>T | ||
| ENST00000679521.1:c.5197C>T | ENSP00000505456.1:p.Arg1733Cys | |
| ENST00000679554.1:c.*5036C>T | ENSP00000506415.1:n.*5036C>T | |
| ENST00000679722.1:n.5473C>T | ||
| ENST00000679821.1:c.4993C>T | ENSP00000506040.1:p.Arg1665Cys | |
| ENST00000680047.1:n.5473C>T | ||
| ENST00000680072.1:c.5251C>T | ENSP00000506581.1:p.Arg1751Cys | |
| ENST00000680074.1:n.5473C>T | ||
| ENST00000680181.1:c.5158C>T | ENSP00000505548.1:p.Arg1720Cys | |
| ENST00000680513.1:c.5110C>T | ENSP00000505284.1:p.Arg1704Cys | |
| ENST00000680534.1:c.5251C>T | ENSP00000506674.1:p.Arg1751Cys | |
| ENST00000680766.1:c.5251C>T | ENSP00000505204.1:p.Arg1751Cys | |
| ENST00000680952.1:c.5251C>T | ENSP00000506407.1:p.Arg1751Cys | |
| ENST00000681412.1:c.5251C>T | ENSP00000506486.1:p.Arg1751Cys | |
| ENST00000681722.1:c.5251C>T | ENSP00000506566.1:p.Arg1751Cys | |
| ENST00000356239.7:c.5251C>T | ENSP00000348573.3:p.Arg1751Cys | |
| ENST00000358100.6:c.5110C>T | ENSP00000350813.3:p.Arg1704Cys | |
| ENST00000359028.6:c.5284C>T | ENSP00000351922.3:p.Arg1762Cys | |
| NM_005751.4:c.5251C>T , LRG_331t1:c.5251C>T | NP_005742.4:p.Arg1751Cys | |
| NM_147185.2:c.5251C>T | NP_671714.1:p.Arg1751Cys | |
| XM_006715827.1:c.5110C>T | XP_006715890.1:p.Arg1704Cys | |
| XM_011515709.1:c.5383C>T | XP_011514011.1:p.Arg1795Cys | |
| XM_011515710.1:c.5383C>T | XP_011514012.1:p.Arg1795Cys | |
| XM_011515711.1:c.5347C>T | XP_011514013.1:p.Arg1783Cys | |
| XM_011515712.1:c.5383C>T | XP_011514014.1:p.Arg1795Cys | |
| XM_011515713.1:c.5329C>T | XP_011514015.1:p.Arg1777Cys | |
| XM_011515714.1:c.5383C>T | XP_011514016.1:p.Arg1795Cys | |
| XM_011515716.1:c.5287C>T | XP_011514018.1:p.Arg1763Cys | |
| XM_011515717.1:c.5242C>T | XP_011514019.1:p.Arg1748Cys | |
| XM_011515718.1:c.5287C>T | XP_011514020.1:p.Arg1763Cys | |
| XM_011515719.1:c.5287C>T | XP_011514021.1:p.Arg1763Cys | |
| XM_011515720.1:c.5146C>T | XP_011514022.1:p.Arg1716Cys | |
| XM_017011642.2:c.5347C>T | XP_016867131.1:p.Arg1783Cys | |
| XM_017011643.2:c.5347C>T | XP_016867132.1:p.Arg1783Cys | |
| XM_017011644.2:c.5347C>T | XP_016867133.1:p.Arg1783Cys | |
| XM_017011645.2:c.5293C>T | XP_016867134.1:p.Arg1765Cys | |
| XM_017011646.2:c.5347C>T | XP_016867135.1:p.Arg1783Cys | |
| XM_017011647.2:c.5254C>T | XP_016867136.1:p.Arg1752Cys | |
| XM_017011648.2:c.5251C>T | XP_016867137.1:p.Arg1751Cys | |
| XM_017011649.2:c.5347C>T | XP_016867138.1:p.Arg1783Cys | |
| XM_017011650.2:c.5251C>T | XP_016867139.1:p.Arg1751Cys | |
| XM_017011651.2:c.5206C>T | XP_016867140.1:p.Arg1736Cys | |
| XM_017011652.2:c.5347C>T | XP_016867141.1:p.Arg1783Cys | |
| XM_017011653.2:c.5158C>T | XP_016867142.1:p.Arg1720Cys | |
| XM_017011654.2:c.5110C>T | XP_016867143.1:p.Arg1704Cys | |
| XM_017011655.2:c.4975C>T | XP_016867144.1:p.Arg1659Cys | |
| XM_017011656.2:c.4975C>T | XP_016867145.1:p.Arg1659Cys | |
| XM_017011657.2:c.1012C>T | XP_016867146.1:p.Arg338Cys | |
| XM_024446631.1:c.5110C>T | XP_024302399.1:p.Arg1704Cys | |
| NM_147185.3:c.5251C>T | NP_671714.1:p.Arg1751Cys | |
| NM_005751.5:c.5251C>T MANE Select | NP_005742.4:p.Arg1751Cys |