Linked Data
ClinVar Variation Id:
429877
dbSNP Id:
rs768091663
ExAC:
1:20964449 G / C
gnomAD v2:
1-20964449-G-C
gnomAD v4:
1-20637956-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20637956G>C , CM000663.2:g.20637956G>C | GRCh38 |
| NC_000001.10:g.20964449G>C , CM000663.1:g.20964449G>C | GRCh37 |
| NC_000001.9:g.20837036G>C | NCBI36 |
| NG_008164.1:g.9502G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000321556.5:c.502G>C MANE Select | ENSP00000364204.3:p.Ala168Pro | |
| ENST00000321556.4:c.502G>C | ENSP00000364204.3:p.Ala168Pro | |
| NM_032409.2:c.502G>C | NP_115785.1:p.Ala168Pro | |
| NM_032409.3:c.502G>C MANE Select | NP_115785.1:p.Ala168Pro |