Linked Data
ClinVar Variation Id:
455014
dbSNP Id:
rs201780665
ExAC:
3:180359860 G / A
gnomAD v2:
3-180359860-G-A
gnomAD v3:
3-180642072-G-A
gnomAD v4:
3-180642072-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.180642072G>A , CM000665.2:g.180642072G>A | GRCh38 |
| NC_000003.11:g.180359860G>A , CM000665.1:g.180359860G>A | GRCh37 |
| NC_000003.10:g.181842554G>A | NCBI36 |
| NG_029581.1:g.42424C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476379.6:c.1795C>T MANE Select | ENSP00000417960.2:p.Arg599Ter | |
| ENST00000650641.1:n.1682C>T | ||
| ENST00000651046.1:c.1603C>T | ENSP00000499175.1:p.Arg535Ter | |
| ENST00000651922.1:n.1120C>T | ||
| ENST00000652408.1:n.1932C>T | ||
| ENST00000442201.6:c.1795C>T | ENSP00000405708.2:p.Arg599Ter | |
| ENST00000476379.5:c.1795C>T | ENSP00000417960.1:p.Arg599Ter | |
| NM_181426.1:c.1795C>T | NP_852091.1:p.Arg599Ter | |
| NM_181426.2:c.1795C>T MANE Select | NP_852091.1:p.Arg599Ter |