Linked Data
ClinVar Variation Id:
40006
ClinVar RCV Id:
RCV002508137
dbSNP Id:
rs397514629
gnomAD v4:
2-113062577-C-G
PubMed:
PMID:22903787
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.113062577C>G , CM000664.2:g.113062577C>G | GRCh38 |
| NC_000002.11:g.113820154C>G , CM000664.1:g.113820154C>G | GRCh37 |
| NC_000002.10:g.113536625C>G | NCBI36 |
| NG_031864.1:g.8940C>G , LRG_730:g.8940C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000437409.2:c.368C>G | ENSP00000409262.2:p.Thr123Arg | |
| ENST00000393200.7:c.368C>G MANE Select | ENSP00000376896.2:p.Thr123Arg | |
| ENST00000346807.7:c.368C>G | ENSP00000259212.3:p.Thr123Arg | |
| ENST00000393200.6:c.368C>G | ENSP00000376896.2:p.Thr123Arg | |
| ENST00000514072.1:c.58C>G | ||
| NM_012275.2:c.368C>G , LRG_730t2:c.368C>G | NP_036407.1:p.Thr123Arg | |
| NM_173170.1:c.368C>G , LRG_730t1:c.368C>G | NP_775262.1:p.Thr123Arg | |
| NM_012275.3:c.368C>G MANE Select | NP_036407.1:p.Thr123Arg |