Linked Data
ClinVar Variation Id:
8003
dbSNP Id:
rs62638191
ExAC:
12:56117812 G / T
gnomAD v2:
12-56117812-G-T
gnomAD v3:
12-55724028-G-T
gnomAD v4:
12-55724028-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.55724028G>T , CM000674.2:g.55724028G>T | GRCh38 |
| NC_000012.11:g.56117812G>T , CM000674.1:g.56117812G>T | GRCh37 |
| NC_000012.10:g.54404079G>T | NCBI36 |
| NG_008347.1:g.10099C>A | |
| NG_008606.1:g.8662G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257895.10:c.712G>T MANE Select | ENSP00000257895.6:p.Gly238Trp | |
| ENST00000257895.9:c.712G>T | ENSP00000257895.5:p.Gly238Trp | |
| ENST00000257899.3:c.592-510G>T | ||
| ENST00000547072.5:c.421G>T | ENSP00000449927.1:p.Gly141Trp | |
| ENST00000548082.1:c.712G>T | ENSP00000447128.1:p.Gly238Trp | |
| ENST00000548123.1:c.443G>T | ||
| ENST00000550412.5:c.*2322G>T | ENSP00000447650.1:n.*2322G>T | |
| ENST00000551444.1:n.662G>T | ||
| NM_001199771.1:c.712G>T | NP_001186700.1:p.Gly238Trp | |
| NM_002905.3:c.712G>T | NP_002896.2:p.Gly238Trp | |
| NR_037658.1:n.771G>T | ||
| NM_001199771.2:c.712G>T | NP_001186700.1:p.Gly238Trp | |
| NM_002905.5:c.712G>T MANE Select | NP_002896.2:p.Gly238Trp | |
| NM_001199771.3:c.712G>T | NP_001186700.1:p.Gly238Trp |