Linked Data
ClinVar Variation Id:
467156
ClinVar RCV Id:
RCV000548147
RCV001130211
RCV001130212
RCV001130213
RCV001130214
RCV001130215
RCV003488678
dbSNP Id:
rs377015571
ExAC:
2:179496930 G / C
gnomAD v2:
2-179496930-G-C
gnomAD v3:
2-178632203-G-C
gnomAD v4:
2-178632203-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178632203G>C , CM000664.2:g.178632203G>C | GRCh38 |
| NC_000002.11:g.179496930G>C , CM000664.1:g.179496930G>C | GRCh37 |
| NC_000002.10:g.179205175G>C | NCBI36 |
| NG_011618.3:g.203600C>G , LRG_391:g.203600C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.35987C>G | ENSP00000343764.6:p.Ser11996Cys | |
| ENST00000342175.11:c.17072C>G | ENSP00000340554.6:p.Ser5691Cys | |
| ENST00000359218.10:c.16871C>G | ENSP00000352154.5:p.Ser5624Cys | |
| ENST00000342175.10:c.17072C>G | ENSP00000340554.6:p.Ser5691Cys | |
| ENST00000342992.10:c.35987C>G | ENSP00000343764.6:p.Ser11996Cys | |
| ENST00000359218.9:c.16871C>G | ENSP00000352154.5:p.Ser5624Cys | |
| ENST00000460472.6:c.16496C>G | ENSP00000434586.1:p.Ser5499Cys | |
| ENST00000589042.5:c.43691C>G MANE Select | ENSP00000467141.1:p.Ser14564Cys | |
| ENST00000591111.5:c.38768C>G | ENSP00000465570.1:p.Ser12923Cys | |
| ENST00000615779.4:c.38768C>G | ENSP00000483597.1:p.Ser12923Cys | |
| NM_001256850.1:c.38768C>G | NP_001243779.1:p.Ser12923Cys | |
| NM_001267550.2:c.43691C>G MANE Select | NP_001254479.2:p.Ser14564Cys | |
| NM_003319.4:c.16496C>G | NP_003310.4:p.Ser5499Cys | |
| NM_133378.4:c.35987C>G | NP_596869.4:p.Ser11996Cys | |
| NM_133432.3:c.16871C>G | NP_597676.3:p.Ser5624Cys | |
| NM_133437.4:c.17072C>G | NP_597681.4:p.Ser5691Cys | |
| XM_011511729.1:c.42788C>G | XP_011510031.1:p.Ser14263Cys | |
| XM_011511730.1:c.16682C>G | XP_011510032.1:p.Ser5561Cys | |
| XM_011511731.1:c.16541C>G | XP_011510033.1:p.Ser5514Cys | |
| XM_017004819.1:c.42584C>G | XP_016860308.1:p.Ser14195Cys | |
| XM_017004820.1:c.37982C>G | XP_016860309.1:p.Ser12661Cys | |
| XM_017004821.1:c.37979C>G | XP_016860310.1:p.Ser12660Cys | |
| XM_017004822.1:c.35021C>G | XP_016860311.1:p.Ser11674Cys | |
| XM_017004823.1:c.16637C>G | XP_016860312.1:p.Ser5546Cys | |
| XM_024453094.1:c.38132C>G | XP_024308862.1:p.Ser12711Cys | |
| XM_024453095.1:c.38129C>G | XP_024308863.1:p.Ser12710Cys | |
| XM_024453096.1:c.37562C>G | XP_024308864.1:p.Ser12521Cys | |
| XM_024453097.1:c.34904C>G | XP_024308865.1:p.Ser11635Cys | |
| XM_024453098.1:c.34823C>G | XP_024308866.1:p.Ser11608Cys | |
| XM_024453099.1:c.16586C>G | XP_024308867.1:p.Ser5529Cys | |
| XM_024453100.1:c.6440C>G | XP_024308868.1:p.Ser2147Cys |