Linked Data
ClinVar Variation Id:
334702
dbSNP Id:
rs200973262
ExAC:
2:227872865 G / A
gnomAD v2:
2-227872865-G-A
gnomAD v3:
2-227008149-G-A
gnomAD v4:
2-227008149-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227008149G>A , CM000664.2:g.227008149G>A | GRCh38 |
| NC_000002.11:g.227872865G>A , CM000664.1:g.227872865G>A | GRCh37 |
| NC_000002.10:g.227581109G>A | NCBI36 |
| NG_011592.1:g.161411C>T , LRG_231:g.161411C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682098.1:c.280C>T | ENSP00000508331.1:p.Arg94Cys | |
| ENST00000396625.5:c.4678C>T MANE Select | ENSP00000379866.3:p.Arg1560Cys | |
| ENST00000396625.3:c.4678C>T | ENSP00000379866.3:p.Arg1560Cys | |
| NM_000092.4:c.4678C>T , LRG_231t1:c.4678C>T | NP_000083.3:p.Arg1560Cys | |
| XM_005246281.2:c.4678C>T | XP_005246338.1:p.Arg1560Cys | |
| XM_005246282.2:c.4123C>T | XP_005246339.1:p.Arg1375Cys | |
| XM_006712246.2:c.4489C>T | XP_006712309.1:p.Arg1497Cys | |
| XM_006712249.2:c.4678C>T | XP_006712312.1:p.Arg1560Cys | |
| XM_006712252.2:c.4216+13899C>T | XP_006712315.1:n.4216+13899C>T | |
| XM_011510557.1:c.4597C>T | XP_011508859.1:p.Arg1533Cys | |
| XM_011510558.1:c.4570C>T | XP_011508860.1:p.Arg1524Cys | |
| XM_011510559.1:c.4678C>T | XP_011508861.1:p.Arg1560Cys | |
| XM_011510560.1:c.4678C>T | XP_011508862.1:p.Arg1560Cys | |
| XM_011510561.1:c.4678C>T | XP_011508863.1:p.Arg1560Cys | |
| XM_011510562.1:c.4678C>T | XP_011508864.1:p.Arg1560Cys | |
| XM_011510563.1:c.*11C>T | XP_011508865.1:n.*11C>T | |
| XM_011510564.1:c.*11C>T | XP_011508866.1:n.*11C>T | |
| XM_011510565.1:c.4216+13899C>T | XP_011508867.1:n.4216+13899C>T | |
| XM_011510566.1:c.4216+13899C>T | XP_011508868.1:n.4216+13899C>T | |
| XM_011510567.1:c.4216+13899C>T | XP_011508869.1:n.4216+13899C>T | |
| XM_011510569.1:c.4216+13899C>T | XP_011508871.1:n.4216+13899C>T | |
| XM_011510570.1:c.4216+13899C>T | XP_011508872.1:n.4216+13899C>T | |
| XM_011510571.1:c.4216+13899C>T | XP_011508873.1:n.4216+13899C>T | |
| XM_011510572.1:c.3004C>T | XP_011508874.1:p.Arg1002Cys | |
| XR_922837.1:n.4988C>T | ||
| XR_922838.1:n.4988C>T | ||
| XR_922839.1:n.4526+13899C>T | ||
| XR_922840.1:n.4526+13899C>T | ||
| XM_005246281.3:c.4678C>T | XP_005246338.1:p.Arg1560Cys | |
| XM_005246282.3:c.4123C>T | XP_005246339.1:p.Arg1375Cys | |
| XM_006712246.3:c.4489C>T | XP_006712309.1:p.Arg1497Cys | |
| XM_011510557.2:c.4597C>T | XP_011508859.1:p.Arg1533Cys | |
| XM_011510558.2:c.4570C>T | XP_011508860.1:p.Arg1524Cys | |
| XM_011510559.2:c.4678C>T | XP_011508861.1:p.Arg1560Cys | |
| XM_011510560.2:c.4678C>T | XP_011508862.1:p.Arg1560Cys | |
| XM_011510561.2:c.4678C>T | XP_011508863.1:p.Arg1560Cys | |
| XM_011510562.2:c.4678C>T | XP_011508864.1:p.Arg1560Cys | |
| XM_011510565.2:c.4216+13899C>T | XP_011508867.1:n.4216+13899C>T | |
| XM_011510566.2:c.4216+13899C>T | XP_011508868.1:n.4216+13899C>T | |
| XM_011510567.2:c.4216+13899C>T | XP_011508869.1:n.4216+13899C>T | |
| XM_011510569.2:c.4216+13899C>T | XP_011508871.1:n.4216+13899C>T | |
| XM_011510570.2:c.4216+13899C>T | XP_011508872.1:n.4216+13899C>T | |
| XM_011510572.3:c.3004C>T | XP_011508874.1:p.Arg1002Cys | |
| XM_017003296.1:c.4678C>T | XP_016858785.1:p.Arg1560Cys | |
| XM_017003297.1:c.4561C>T | XP_016858786.1:p.Arg1521Cys | |
| XM_017003298.1:c.4678C>T | XP_016858787.1:p.Arg1560Cys | |
| XM_017003300.1:c.4216+13899C>T | XP_016858789.1:n.4216+13899C>T | |
| XR_001738602.1:n.5004C>T | ||
| XR_001738603.1:n.5004C>T | ||
| XR_001738604.1:n.4750C>T | ||
| XR_001738606.1:n.4542+13899C>T | ||
| XR_001738607.1:n.4542+13899C>T | ||
| XR_922837.2:n.5004C>T | ||
| NM_000092.5:c.4678C>T MANE Select | NP_000083.3:p.Arg1560Cys |