Linked Data
ClinVar Variation Id:
35772
dbSNP Id:
rs28730716
ExAC:
1:116269619 T / C
gnomAD v2:
1-116269619-T-C
gnomAD v3:
1-115726998-T-C
gnomAD v4:
1-115726998-T-C
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115726998T>C , CM000663.2:g.115726998T>C | GRCh38 |
| NC_000001.10:g.116269619T>C , CM000663.1:g.116269619T>C | GRCh37 |
| NC_000001.9:g.116071142T>C | NCBI36 |
| NG_008802.1:g.46808A>G , LRG_404:g.46808A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000488931.2:c.*103A>G | ENSP00000518226.1:n.*103A>G | |
| ENST00000261448.6:c.731A>G MANE Select | ENSP00000261448.5:p.His244Arg | |
| ENST00000261448.5:c.731A>G | ENSP00000261448.5:p.His244Arg | |
| NM_001232.3:c.731A>G , LRG_404t1:c.731A>G | NP_001223.2:p.His244Arg | |
| NM_001232.4:c.731A>G MANE Select | NP_001223.2:p.His244Arg |