Linked Data
ClinVar Variation Id:
47210
ClinVar RCV Id:
RCV000040480
RCV000172727
RCV000264307
RCV000299606
RCV000298490
RCV000358988
RCV000393329
RCV000852934
RCV001083255
RCV001798172
RCV002345308
RCV004534918
dbSNP Id:
rs146496197
ExAC:
2:179640923 G / A
gnomAD v2:
2-179640923-G-A
gnomAD v3:
2-178776196-G-A
gnomAD v4:
2-178776196-G-A
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178776196G>A , CM000664.2:g.178776196G>A | GRCh38 |
| NC_000002.11:g.179640923G>A , CM000664.1:g.179640923G>A | GRCh37 |
| NC_000002.10:g.179349168G>A | NCBI36 |
| NG_011618.3:g.59607C>T , LRG_391:g.59607C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.5668C>T | ENSP00000343764.6:p.Arg1890Cys | |
| ENST00000342175.11:c.5530C>T | ENSP00000340554.6:p.Arg1844Cys | |
| ENST00000359218.10:c.5530C>T | ENSP00000352154.5:p.Arg1844Cys | |
| ENST00000360870.10:c.5668C>T MANE Plus Clinical | ENSP00000354117.4:p.Arg1890Cys | |
| ENST00000342175.10:c.5530C>T | ENSP00000340554.6:p.Arg1844Cys | |
| ENST00000342992.10:c.5668C>T | ENSP00000343764.6:p.Arg1890Cys | |
| ENST00000359218.9:c.5530C>T | ENSP00000352154.5:p.Arg1844Cys | |
| ENST00000360870.9:c.5668C>T | ENSP00000354117.4:p.Arg1890Cys | |
| ENST00000460472.6:c.5530C>T | ENSP00000434586.1:p.Arg1844Cys | |
| ENST00000589042.5:c.5668C>T MANE Select | ENSP00000467141.1:p.Arg1890Cys | |
| ENST00000591111.5:c.5668C>T | ENSP00000465570.1:p.Arg1890Cys | |
| ENST00000615779.4:c.5668C>T | ENSP00000483597.1:p.Arg1890Cys | |
| NM_001256850.1:c.5668C>T | NP_001243779.1:p.Arg1890Cys | |
| NM_001267550.2:c.5668C>T MANE Select | NP_001254479.2:p.Arg1890Cys | |
| NM_003319.4:c.5530C>T | NP_003310.4:p.Arg1844Cys | |
| NM_133378.4:c.5668C>T | NP_596869.4:p.Arg1890Cys | |
| NM_133379.4:c.5668C>T , LRG_391t2:c.5668C>T | NP_596870.2:p.Arg1890Cys | |
| NM_133432.3:c.5530C>T | NP_597676.3:p.Arg1844Cys | |
| NM_133437.4:c.5530C>T | NP_597681.4:p.Arg1844Cys | |
| XM_011511729.1:c.5716C>T | XP_011510031.1:p.Arg1906Cys | |
| XM_011511730.1:c.5716C>T | XP_011510032.1:p.Arg1906Cys | |
| XM_011511731.1:c.5575C>T | XP_011510033.1:p.Arg1859Cys | |
| XM_011511732.1:c.5713C>T | XP_011510034.1:p.Arg1905Cys | |
| XM_017004819.1:c.5671C>T | XP_016860308.1:p.Arg1891Cys | |
| XM_017004820.1:c.5671C>T | XP_016860309.1:p.Arg1891Cys | |
| XM_017004821.1:c.5668C>T | XP_016860310.1:p.Arg1890Cys | |
| XM_017004822.1:c.5671C>T | XP_016860311.1:p.Arg1891Cys | |
| XM_017004823.1:c.5671C>T | XP_016860312.1:p.Arg1891Cys | |
| XM_024453094.1:c.5671C>T | XP_024308862.1:p.Arg1891Cys | |
| XM_024453095.1:c.5671C>T | XP_024308863.1:p.Arg1891Cys | |
| XM_024453096.1:c.5671C>T | XP_024308864.1:p.Arg1891Cys | |
| XM_024453097.1:c.5671C>T | XP_024308865.1:p.Arg1891Cys | |
| XM_024453098.1:c.5671C>T | XP_024308866.1:p.Arg1891Cys | |
| XM_024453099.1:c.5671C>T | XP_024308867.1:p.Arg1891Cys | |
| NM_133379.5:c.5668C>T MANE Plus Clinical | NP_596870.2:p.Arg1890Cys |