Linked Data
ClinVar Variation Id:
1562822
ClinVar RCV Id:
RCV002205088
dbSNP Id:
rs747407725
ExAC:
11:67378941 C / A
gnomAD v2:
11-67378941-C-A
gnomAD v3:
11-67611470-C-A
gnomAD v4:
11-67611470-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67611470C>A , CM000673.2:g.67611470C>A | GRCh38 |
| NC_000011.9:g.67378941C>A , CM000673.1:g.67378941C>A | GRCh37 |
| NC_000011.8:g.67135517C>A | NCBI36 |
| NG_013353.1:g.9619C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322776.11:c.981C>A MANE Select | ENSP00000322450.6:p.Ile327= | |
| ENST00000647561.1:c.981C>A | ENSP00000497587.1:p.Ile327= | |
| ENST00000322776.10:c.981C>A | ENSP00000322450.6:p.Ile327= | |
| ENST00000415352.6:c.960C>A | ENSP00000395368.2:p.Ile320= | |
| ENST00000526169.1:n.656-52C>A | ||
| ENST00000526770.5:n.1264C>A | ||
| ENST00000527355.5:c.270C>A | ENSP00000432637.1:p.Ile90= | |
| ENST00000527923.1:n.323C>A | ||
| ENST00000529927.5:c.954C>A | ENSP00000436766.1:p.Ile318= | |
| ENST00000532303.5:c.678C>A | ENSP00000432015.1:p.Ile226= | |
| ENST00000533919.5:c.392-7C>A | ENSP00000435199.1:n.392-7C>A | |
| NM_001166102.1:c.954C>A | NP_001159574.1:p.Ile318= | |
| NM_007103.3:c.981C>A | NP_009034.2:p.Ile327= | |
| NM_001166102.2:c.954C>A | NP_001159574.1:p.Ile318= | |
| NM_007103.4:c.981C>A MANE Select | NP_009034.2:p.Ile327= |