Linked Data
ClinVar Variation Id:
189198
ClinVar RCV Id:
RCV000169633
dbSNP Id:
rs786204767
gnomAD v2:
19-50195618-C-T
gnomAD v4:
19-49692361-C-T
PubMed:
PMID:25751282
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49692361C>T , CM000681.2:g.49692361C>T | GRCh38 |
| NC_000019.9:g.50195618C>T , CM000681.1:g.50195618C>T | GRCh37 |
| NC_000019.8:g.54887430C>T | NCBI36 |
| NG_050570.1:g.6484C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000598293.6:c.109C>T MANE Select | ENSP00000473028.1:p.Arg37Cys | |
| ENST00000295404.9:n.256C>T | ||
| ENST00000323446.9:c.109C>T | ENSP00000319343.4:p.Arg37Cys | |
| ENST00000392518.8:c.109C>T | ENSP00000376303.4:p.Arg37Cys | |
| ENST00000405931.6:c.109C>T | ENSP00000384465.2:p.Arg37Cys | |
| ENST00000594038.5:c.109C>T | ENSP00000471160.1:p.Arg37Cys | |
| ENST00000594587.5:c.109C>T | ENSP00000471579.1:p.Arg37Cys | |
| ENST00000595568.5:c.109C>T | ENSP00000473082.1:p.Arg37Cys | |
| ENST00000595969.5:c.109C>T | ENSP00000472453.1:p.Arg37Cys | |
| ENST00000596922.5:c.109C>T | ENSP00000470739.1:p.Arg37Cys | |
| ENST00000598259.5:c.109C>T | ENSP00000472742.1:p.Arg37Cys | |
| ENST00000598293.5:c.109C>T | ENSP00000473028.1:p.Arg37Cys | |
| ENST00000598396.5:c.109C>T | ENSP00000470221.1:p.Arg37Cys | |
| ENST00000598714.5:n.394C>T | ||
| ENST00000599023.5:n.417C>T | ||
| ENST00000600944.5:n.385C>T | ||
| ENST00000602019.5:c.109C>T | ENSP00000472828.1:p.Arg37Cys | |
| NM_001136052.2:c.109C>T | NP_001129524.1:p.Arg37Cys | |
| NM_001199752.2:c.109C>T | NP_001186681.1:p.Arg37Cys | |
| NM_001199753.1:c.109C>T | NP_001186682.1:p.Arg37Cys | |
| NM_152359.2:c.109C>T | NP_689572.1:p.Arg37Cys | |
| NR_108072.1:n.466C>T | ||
| XM_005258505.2:c.109C>T | XP_005258562.1:p.Arg37Cys | |
| XM_005258506.3:c.109C>T | XP_005258563.1:p.Arg37Cys | |
| XM_006723009.2:c.-206C>T | XP_006723072.1:n.-206C>T | |
| XM_006723010.2:c.109C>T | XP_006723073.1:p.Arg37Cys | |
| XM_011526438.1:c.109C>T | XP_011524740.1:p.Arg37Cys | |
| XM_011526439.1:c.109C>T | XP_011524741.1:p.Arg37Cys | |
| XM_011526440.1:c.109C>T | XP_011524742.1:p.Arg37Cys | |
| XM_005258506.4:c.109C>T | XP_005258563.1:p.Arg37Cys | |
| XM_006723009.3:c.-206C>T | XP_006723072.1:n.-206C>T | |
| XM_011526440.3:c.109C>T | XP_011524742.1:p.Arg37Cys | |
| XM_017026265.1:c.109C>T | XP_016881754.1:p.Arg37Cys | |
| XM_017026266.2:c.109C>T | XP_016881755.1:p.Arg37Cys | |
| XM_017026267.1:c.-206C>T | XP_016881756.1:n.-206C>T | |
| XM_017026268.1:c.-206C>T | XP_016881757.1:n.-206C>T | |
| XM_017026269.1:c.-206C>T | XP_016881758.1:n.-206C>T | |
| XM_017026271.1:c.-206C>T | XP_016881760.1:n.-206C>T | |
| XM_017026272.1:c.-206C>T | XP_016881761.1:n.-206C>T | |
| XM_017026273.1:c.-206C>T | XP_016881762.1:n.-206C>T | |
| XM_024451348.1:c.109C>T | XP_024307116.1:p.Arg37Cys | |
| XM_024451349.1:c.109C>T | XP_024307117.1:p.Arg37Cys | |
| XM_024451350.1:c.109C>T | XP_024307118.1:p.Arg37Cys | |
| XM_024451351.1:c.109C>T | XP_024307119.1:p.Arg37Cys | |
| XM_024451352.1:c.109C>T | XP_024307120.1:p.Arg37Cys | |
| XM_024451353.1:c.109C>T | XP_024307121.1:p.Arg37Cys | |
| XM_024451354.1:c.109C>T | XP_024307122.1:p.Arg37Cys | |
| XM_024451355.1:c.109C>T | XP_024307123.1:p.Arg37Cys | |
| XM_024451356.1:c.109C>T | XP_024307124.1:p.Arg37Cys | |
| XM_024451357.1:c.-206C>T | XP_024307125.1:n.-206C>T | |
| XM_024451358.1:c.-206C>T | XP_024307126.1:n.-206C>T | |
| NR_108072.2:n.458C>T | ||
| NM_001136052.3:c.109C>T | NP_001129524.1:p.Arg37Cys | |
| NM_001199752.3:c.109C>T | NP_001186681.1:p.Arg37Cys | |
| NM_001199753.2:c.109C>T MANE Select | NP_001186682.1:p.Arg37Cys | |
| NM_001378482.1:c.109C>T | NP_001365411.1:p.Arg37Cys | |
| NM_001378483.1:c.109C>T | NP_001365412.1:p.Arg37Cys | |
| NM_001378484.1:c.109C>T | NP_001365413.1:p.Arg37Cys | |
| NM_001378485.1:c.109C>T | NP_001365414.1:p.Arg37Cys | |
| NM_001378486.1:c.109C>T | NP_001365415.1:p.Arg37Cys | |
| NM_001378487.1:c.109C>T | NP_001365416.1:p.Arg37Cys | |
| NM_001378488.1:c.109C>T | NP_001365417.1:p.Arg37Cys | |
| NM_152359.3:c.109C>T | NP_689572.1:p.Arg37Cys |