Linked Data
ClinVar Variation Id:
65598
ClinVar RCV Id:
RCV000055805
dbSNP Id:
rs397515526
PubMed:
PMID:20301419
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.63061353C>G , CM000670.2:g.63061353C>G | GRCh38 |
| NC_000008.10:g.63973912C>G , CM000670.1:g.63973912C>G | GRCh37 |
| NC_000008.9:g.64136466C>G | NCBI36 |
| NG_016123.1:g.29701G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260116.5:c.736G>C MANE Select | ENSP00000260116.4:p.Gly246Arg | |
| ENST00000260116.4:c.736G>C | ENSP00000260116.4:p.Gly246Arg | |
| ENST00000521138.1:n.233-12750G>C | ||
| NM_000370.3:c.736G>C MANE Select | NP_000361.1:p.Gly246Arg | |
| XM_006716468.2:c.388G>C | XP_006716531.1:p.Gly130Arg | |
| XM_006716468.4:c.388G>C | XP_006716531.1:p.Gly130Arg |