Linked Data
ClinVar Variation Id:
346039
ClinVar RCV Id:
RCV000345162
dbSNP Id:
rs544461335
ExAC:
3:49459959 C / G
gnomAD v2:
3-49459959-C-G
gnomAD v3:
3-49422526-C-G
gnomAD v4:
3-49422526-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49422526C>G , CM000665.2:g.49422526C>G | GRCh38 |
| NC_000003.11:g.49459959C>G , CM000665.1:g.49459959C>G | GRCh37 |
| NC_000003.10:g.49434963C>G | NCBI36 |
| NG_015986.1:g.5153G>C , LRG_537:g.5153G>C | |
| NG_033046.1:g.11799G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273598.8:c.*2307G>C (NICN1) MANE Select | ENSP00000273598.4:n.*2307G>C | |
| ENST00000395338.7:c.-76G>C (AMT) | ENSP00000378747.2:n.-76G>C | |
| ENST00000462048.2:c.-189G>C (AMT) | ENSP00000490465.1:n.-189G>C | |
| ENST00000485108.6:n.221-255G>C | ||
| ENST00000538581.6:c.-206G>C (AMT) | ENSP00000443200.2:n.-206G>C | |
| ENST00000636166.1:c.496-954G>C | ENSP00000490106.1:n.496-954G>C | |
| ENST00000636204.1:n.1118G>C | ||
| ENST00000636461.1:c.2948G>C | ||
| ENST00000636587.1:n.68G>C (AMT) | ||
| ENST00000637088.1:n.3391G>C | ||
| ENST00000637442.1:n.1331G>C | ||
| ENST00000638014.1:c.2617G>C | ||
| ENST00000638079.1:c.*607-255G>C | ENSP00000490120.1:n.*607-255G>C | |
| ENST00000638115.1:c.*1852-255G>C | ENSP00000490296.1:n.*1852-255G>C | |
| ENST00000273588.7:c.-76G>C (AMT) | ENSP00000273588.3:n.-76G>C | |
| ENST00000395338.6:c.-76G>C (AMT) | ENSP00000378747.2:n.-76G>C | |
| ENST00000462048.1:n.160G>C (AMT) | ||
| ENST00000476226.5:n.4G>C (AMT) | ||
| ENST00000538581.5:c.-76G>C (AMT) | ENSP00000443200.1:n.-76G>C | |
| NM_000481.3:c.-76G>C , LRG_537t1:c.-76G>C (AMT) | NP_000472.2:n.-76G>C | |
| NM_001164710.1:c.-76G>C (AMT) | NP_001158182.1:n.-76G>C | |
| NM_001164711.1:c.-76G>C (AMT) | NP_001158183.1:n.-76G>C | |
| NM_001164712.1:c.-76G>C (AMT) | NP_001158184.1:n.-76G>C | |
| NM_032316.3:c.*2307G>C (NICN1) MANE Select | NP_115692.1:n.*2307G>C | |
| NR_028435.1:n.153G>C (AMT) |