Linked Data
ClinVar Variation Id:
1126208
ClinVar RCV Id:
RCV001458152
dbSNP Id:
rs528436514
ExAC:
8:134261008 G / A
gnomAD v2:
8-134261008-G-A
gnomAD v3:
8-133248765-G-A
gnomAD v4:
8-133248765-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.133248765G>A , CM000670.2:g.133248765G>A | GRCh38 |
| NC_000008.10:g.134261008G>A , CM000670.1:g.134261008G>A | GRCh37 |
| NC_000008.9:g.134330190G>A | NCBI36 |
| NG_007943.1:g.53491C>T , LRG_258:g.53491C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323851.13:c.705C>T MANE Select | ENSP00000319977.8:p.Arg235= | |
| ENST00000537882.3:c.705C>T | ENSP00000437443.2:p.Arg235= | |
| ENST00000675056.1:n.35C>T | ||
| ENST00000675068.1:c.7C>T | ||
| ENST00000675172.1:c.301C>T | ENSP00000502297.1:n.301C>T | |
| ENST00000675273.1:n.64C>T | ||
| ENST00000675860.1:n.470C>T | ||
| ENST00000676444.1:n.736C>T | ||
| ENST00000323851.11:c.705C>T | ENSP00000319977.7:p.Arg235= | |
| ENST00000414097.6:c.705C>T | ENSP00000404854.2:p.Arg235= | |
| ENST00000517331.5:n.423C>T | ||
| ENST00000517599.5:c.*311C>T | ENSP00000429172.1:n.*311C>T | |
| ENST00000518066.5:c.37-6709C>T | ENSP00000431057.1:n.37-6709C>T | |
| ENST00000518176.5:c.49-2102C>T | ENSP00000429007.1:n.49-2102C>T | |
| ENST00000519278.5:n.1801C>T | ||
| ENST00000521414.5:n.167C>T | ||
| ENST00000521664.1:n.455C>T | ||
| ENST00000522377.5:c.*185C>T | ENSP00000429380.1:n.*185C>T | |
| ENST00000522476.5:c.507C>T | ENSP00000427894.1:p.Arg169= | |
| ENST00000522665.5:n.28C>T | ||
| ENST00000537882.2:c.462C>T | ENSP00000437443.1:p.Arg154= | |
| NM_001135242.1:c.705C>T | NP_001128714.1:p.Arg235= | |
| NM_001258432.1:c.507C>T | NP_001245361.1:p.Arg169= | |
| NM_001258433.1:c.462C>T | NP_001245362.1:p.Arg154= | |
| NM_006096.3:c.705C>T , LRG_258t1:c.705C>T | NP_006087.2:p.Arg235= | |
| XM_011516791.1:c.756C>T | XP_011515093.1:p.Arg252= | |
| XM_011516792.1:c.138C>T | XP_011515094.1:p.Arg46= | |
| XM_011516792.2:c.138C>T | XP_011515094.1:p.Arg46= | |
| NM_001135242.2:c.705C>T | NP_001128714.1:p.Arg235= | |
| NM_001258432.2:c.507C>T | NP_001245361.1:p.Arg169= | |
| NM_001258433.2:c.462C>T | NP_001245362.1:p.Arg154= | |
| NM_001374844.1:c.756C>T | NP_001361773.1:p.Arg252= | |
| NM_001374845.1:c.705C>T | NP_001361774.1:p.Arg235= | |
| NM_001374846.1:c.705C>T | NP_001361775.1:p.Arg235= | |
| NM_001374847.1:c.507C>T | NP_001361776.1:p.Arg169= | |
| NM_006096.4:c.705C>T MANE Select | NP_006087.2:p.Arg235= |