Linked Data
ClinVar Variation Id:
56225
dbSNP Id:
rs386833677
ExAC:
3:49459938 G / A
gnomAD v2:
3-49459938-G-A
gnomAD v3:
3-49422505-G-A
gnomAD v4:
3-49422505-G-A
PubMed:
PMID:19299230
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49422505G>A , CM000665.2:g.49422505G>A | GRCh38 |
| NC_000003.11:g.49459938G>A , CM000665.1:g.49459938G>A | GRCh37 |
| NC_000003.10:g.49434942G>A | NCBI36 |
| NG_015986.1:g.5174C>T , LRG_537:g.5174C>T | |
| NG_033046.1:g.11820C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273598.8:c.*2328C>T (NICN1) MANE Select | ENSP00000273598.4:n.*2328C>T | |
| ENST00000395338.7:c.-55C>T (AMT) | ENSP00000378747.2:n.-55C>T | |
| ENST00000462048.2:c.-168C>T (AMT) | ENSP00000490465.1:n.-168C>T | |
| ENST00000485108.6:n.221-234C>T | ||
| ENST00000538581.6:c.-185C>T (AMT) | ENSP00000443200.2:n.-185C>T | |
| ENST00000636166.1:c.496-933C>T | ENSP00000490106.1:n.496-933C>T | |
| ENST00000636204.1:n.1139C>T | ||
| ENST00000636461.1:c.2969C>T | ||
| ENST00000636587.1:n.89C>T (AMT) | ||
| ENST00000637088.1:n.3412C>T | ||
| ENST00000637442.1:n.1352C>T | ||
| ENST00000638014.1:c.2638C>T | ||
| ENST00000638079.1:c.*607-234C>T | ENSP00000490120.1:n.*607-234C>T | |
| ENST00000638115.1:c.*1852-234C>T | ENSP00000490296.1:n.*1852-234C>T | |
| ENST00000273588.7:c.-55C>T (AMT) | ENSP00000273588.3:n.-55C>T | |
| ENST00000395338.6:c.-55C>T (AMT) | ENSP00000378747.2:n.-55C>T | |
| ENST00000462048.1:n.181C>T (AMT) | ||
| ENST00000476226.5:n.25C>T (AMT) | ||
| ENST00000538581.5:c.-55C>T (AMT) | ENSP00000443200.1:n.-55C>T | |
| NM_000481.3:c.-55C>T , LRG_537t1:c.-55C>T (AMT) | NP_000472.2:n.-55C>T | |
| NM_001164710.1:c.-55C>T (AMT) | NP_001158182.1:n.-55C>T | |
| NM_001164711.1:c.-55C>T (AMT) | NP_001158183.1:n.-55C>T | |
| NM_001164712.1:c.-55C>T (AMT) | NP_001158184.1:n.-55C>T | |
| NM_032316.3:c.*2328C>T (NICN1) MANE Select | NP_115692.1:n.*2328C>T | |
| NR_028435.1:n.174C>T (AMT) |