Linked Data
ClinVar Variation Id:
8007
ClinVar RCV Id:
RCV000008471
dbSNP Id:
rs104894373
gnomAD v2:
12-56115692-T-G
gnomAD v4:
12-55721908-T-G
PubMed:
PMID:11078852
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.55721908T>G , CM000674.2:g.55721908T>G | GRCh38 |
| NC_000012.11:g.56115692T>G , CM000674.1:g.56115692T>G | GRCh37 |
| NC_000012.10:g.54401959T>G | NCBI36 |
| NG_008606.1:g.6542T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000257895.10:c.530T>G MANE Select | ENSP00000257895.6:p.Val177Gly | |
| ENST00000257895.9:c.530T>G | ENSP00000257895.5:p.Val177Gly | |
| ENST00000257899.3:c.545T>G | ||
| ENST00000547072.5:c.239T>G | ENSP00000449927.1:p.Val80Gly | |
| ENST00000548082.1:c.530T>G | ENSP00000447128.1:p.Val177Gly | |
| ENST00000548123.1:c.300+414T>G | ||
| ENST00000548486.1:n.540T>G | ||
| ENST00000550412.5:c.*202T>G | ENSP00000447650.1:n.*202T>G | |
| ENST00000550608.1:n.669T>G | ||
| ENST00000551946.5:c.*333T>G | ENSP00000450201.1:n.*333T>G | |
| ENST00000553160.1:n.406-287T>G | ||
| ENST00000553187.5:n.540T>G | ||
| NM_001199771.1:c.530T>G | NP_001186700.1:p.Val177Gly | |
| NM_002905.3:c.530T>G | NP_002896.2:p.Val177Gly | |
| NR_037658.1:n.589T>G | ||
| NM_001199771.2:c.530T>G | NP_001186700.1:p.Val177Gly | |
| NM_002905.5:c.530T>G MANE Select | NP_002896.2:p.Val177Gly | |
| NM_001199771.3:c.530T>G | NP_001186700.1:p.Val177Gly |