Linked Data
ClinVar Variation Id:
8006
dbSNP Id:
rs111033593
gnomAD v2:
12-56118252-G-C
gnomAD v3:
12-55724468-G-C
gnomAD v4:
12-55724468-G-C
PubMed:
PMID:10617778
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.55724468G>C , CM000674.2:g.55724468G>C | GRCh38 |
| NC_000012.11:g.56118252G>C , CM000674.1:g.56118252G>C | GRCh37 |
| NC_000012.10:g.54404519G>C | NCBI36 |
| NG_008347.1:g.9659C>G | |
| NG_008606.1:g.9102G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000257895.10:c.880G>C MANE Select | ENSP00000257895.6:p.Ala294Pro | |
| ENST00000257895.9:c.880G>C | ENSP00000257895.5:p.Ala294Pro | |
| ENST00000257899.3:c.592-70G>C | ||
| ENST00000547072.5:c.589G>C | ENSP00000449927.1:p.Ala197Pro | |
| ENST00000548082.1:c.880G>C | ENSP00000447128.1:p.Ala294Pro | |
| ENST00000550412.5:c.*2762G>C | ENSP00000447650.1:n.*2762G>C | |
| ENST00000551444.1:n.830G>C | ||
| NM_001199771.1:c.880G>C | NP_001186700.1:p.Ala294Pro | |
| NM_002905.3:c.880G>C | NP_002896.2:p.Ala294Pro | |
| NR_037658.1:n.939G>C | ||
| NM_001199771.2:c.880G>C | NP_001186700.1:p.Ala294Pro | |
| NM_002905.5:c.880G>C MANE Select | NP_002896.2:p.Ala294Pro | |
| NM_001199771.3:c.880G>C | NP_001186700.1:p.Ala294Pro |