Linked Data
ClinVar Variation Id:
17842
dbSNP Id:
rs28931580
ExAC:
12:50344783 A / C
gnomAD v2:
12-50344783-A-C
gnomAD v4:
12-49951000-A-C
PubMed:
PMID:12050236
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49951000A>C , CM000674.2:g.49951000A>C | GRCh38 |
| NC_000012.11:g.50344783A>C , CM000674.1:g.50344783A>C | GRCh37 |
| NC_000012.10:g.48631050A>C | NCBI36 |
| NG_008913.1:g.5260A>C , LRG_717:g.5260A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000199280.4:c.170A>C MANE Select | ENSP00000199280.3:p.Gln57Pro | |
| ENST00000199280.3:c.170A>C | ENSP00000199280.3:p.Gln57Pro | |
| ENST00000550862.1:c.170A>C | ENSP00000450022.1:p.Gln57Pro | |
| ENST00000551526.5:c.170A>C | ENSP00000447148.1:p.Gln57Pro | |
| NM_000486.5:c.170A>C , LRG_717t1:c.170A>C | NP_000477.1:p.Gln57Pro | |
| NM_000486.6:c.170A>C MANE Select | NP_000477.1:p.Gln57Pro |