Linked Data
ClinVar Variation Id:
346038
dbSNP Id:
rs763223038
ExAC:
3:49459800 G / A
gnomAD v2:
3-49459800-G-A
gnomAD v3:
3-49422367-G-A
gnomAD v4:
3-49422367-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49422367G>A , CM000665.2:g.49422367G>A | GRCh38 |
| NC_000003.11:g.49459800G>A , CM000665.1:g.49459800G>A | GRCh37 |
| NC_000003.10:g.49434804G>A | NCBI36 |
| NG_015986.1:g.5312C>T , LRG_537:g.5312C>T | |
| NG_033046.1:g.11958C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273588.9:c.84C>T (AMT) MANE Select | ENSP00000273588.3:p.Cys28= | |
| ENST00000273598.8:c.*2466C>T (NICN1) MANE Select | ENSP00000273598.4:n.*2466C>T | |
| ENST00000395338.7:c.84C>T (AMT) | ENSP00000378747.2:p.Cys28= | |
| ENST00000399379.7:c.54C>T (AMT) | ENSP00000399943.2:p.Cys18= | |
| ENST00000427987.6:c.-47C>T (AMT) | ENSP00000403821.2:n.-47C>T | |
| ENST00000430521.2:c.84C>T (AMT) | ENSP00000388068.2:p.Cys28= | |
| ENST00000462048.2:c.-102+72C>T (AMT) | ENSP00000490465.1:n.-102+72C>T | |
| ENST00000465925.6:n.103C>T (AMT) | ||
| ENST00000473163.2:n.97C>T (AMT) | ||
| ENST00000476226.6:n.97C>T (AMT) | ||
| ENST00000478594.6:n.103C>T (AMT) | ||
| ENST00000480957.6:n.102C>T (AMT) | ||
| ENST00000485108.6:n.221-96C>T | ||
| ENST00000487589.6:n.11C>T (AMT) | ||
| ENST00000491800.3:n.106C>T (AMT) | ||
| ENST00000493046.6:n.92C>T (AMT) | ||
| ENST00000538581.6:c.-47C>T (AMT) | ENSP00000443200.2:n.-47C>T | |
| ENST00000635772.1:n.88C>T (AMT) | ||
| ENST00000635808.1:c.84C>T (AMT) | ENSP00000489620.1:p.Cys28= | |
| ENST00000635889.1:n.107C>T (AMT) | ||
| ENST00000636023.1:c.84C>T (AMT) | ENSP00000489969.1:p.Cys28= | |
| ENST00000636070.1:c.84C>T (AMT) | ENSP00000490160.1:p.Cys28= | |
| ENST00000636148.1:n.65C>T (AMT) | ||
| ENST00000636166.1:c.496-795C>T | ENSP00000490106.1:n.496-795C>T | |
| ENST00000636199.1:c.84C>T (AMT) | ENSP00000490871.1:p.Cys28= | |
| ENST00000636204.1:n.1277C>T | ||
| ENST00000636461.1:c.3107C>T | ||
| ENST00000636522.1:c.84C>T (AMT) | ENSP00000489758.1:p.Cys28= | |
| ENST00000636587.1:n.227C>T (AMT) | ||
| ENST00000636597.1:c.84C>T (AMT) | ENSP00000490251.1:p.Cys28= | |
| ENST00000636725.1:n.88C>T (AMT) | ||
| ENST00000636803.1:n.88C>T (AMT) | ||
| ENST00000636865.1:c.-47C>T (AMT) | ENSP00000490601.1:n.-47C>T | |
| ENST00000636871.1:n.27C>T (AMT) | ||
| ENST00000636978.1:n.88C>T (AMT) | ||
| ENST00000636991.1:n.107C>T (AMT) | ||
| ENST00000637088.1:n.3550C>T | ||
| ENST00000637114.1:n.76C>T (AMT) | ||
| ENST00000637268.1:n.103C>T (AMT) | ||
| ENST00000637291.1:n.92C>T (AMT) | ||
| ENST00000637442.1:n.1490C>T | ||
| ENST00000637457.1:n.125C>T (AMT) | ||
| ENST00000637682.1:c.84C>T (AMT) | ENSP00000489856.1:p.Cys28= | |
| ENST00000637684.1:n.97C>T (AMT) | ||
| ENST00000637821.1:c.84C>T (AMT) | ENSP00000490482.1:p.Cys28= | |
| ENST00000637914.1:n.103C>T (AMT) | ||
| ENST00000637994.1:n.94C>T (AMT) | ||
| ENST00000638014.1:c.2776C>T | ||
| ENST00000638063.1:c.84C>T (AMT) | ENSP00000489760.1:p.Cys28= | |
| ENST00000638079.1:c.*607-96C>T | ENSP00000490120.1:n.*607-96C>T | |
| ENST00000638092.1:n.88C>T (AMT) | ||
| ENST00000638115.1:c.*1852-96C>T | ENSP00000490296.1:n.*1852-96C>T | |
| ENST00000273588.7:c.84C>T (AMT) | ENSP00000273588.3:p.Cys28= | |
| ENST00000395338.6:c.84C>T (AMT) | ENSP00000378747.2:p.Cys28= | |
| ENST00000399379.6:c.84C>T (AMT) | ENSP00000399943.1:p.Cys28= | |
| ENST00000427987.5:c.76C>T (AMT) | ||
| ENST00000430521.1:c.84C>T (AMT) | ENSP00000388068.1:p.Cys28= | |
| ENST00000458307.6:c.84C>T (AMT) | ENSP00000415619.2:p.Cys28= | |
| ENST00000462048.1:n.247+72C>T (AMT) | ||
| ENST00000476226.5:n.163C>T (AMT) | ||
| ENST00000478594.5:n.92C>T (AMT) | ||
| ENST00000480957.5:n.92C>T (AMT) | ||
| ENST00000485108.5:n.92C>T (AMT) | ||
| ENST00000487589.5:n.97C>T (AMT) | ||
| ENST00000493046.5:n.85C>T (AMT) | ||
| ENST00000495436.5:n.85C>T (AMT) | ||
| ENST00000498571.1:n.82C>T (AMT) | ||
| ENST00000538581.5:c.84C>T (AMT) | ENSP00000443200.1:p.Cys28= | |
| NM_000481.3:c.84C>T , LRG_537t1:c.84C>T (AMT) | NP_000472.2:p.Cys28= | |
| NM_001164710.1:c.84C>T (AMT) | NP_001158182.1:p.Cys28= | |
| NM_001164711.1:c.84C>T (AMT) | NP_001158183.1:p.Cys28= | |
| NM_001164712.1:c.84C>T (AMT) | NP_001158184.1:p.Cys28= | |
| NM_032316.3:c.*2466C>T (NICN1) MANE Select | NP_115692.1:n.*2466C>T | |
| NR_028435.1:n.312C>T (AMT) | ||
| NM_000481.4:c.84C>T (AMT) MANE Select | NP_000472.2:p.Cys28= | |
| NM_001164710.2:c.84C>T (AMT) | NP_001158182.1:p.Cys28= | |
| NM_001164711.2:c.84C>T (AMT) | NP_001158183.1:p.Cys28= | |
| NM_001164712.2:c.84C>T (AMT) | NP_001158184.1:p.Cys28= | |
| NR_028435.2:n.107C>T (AMT) |