Linked Data
ClinVar Variation Id:
3118676
ClinVar RCV Id:
RCV004415040
dbSNP Id:
rs764943118
gnomAD v2:
12-113901309-C-G
gnomAD v4:
12-113463504-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.113463504C>G , CM000674.2:g.113463504C>G | GRCh38 |
| NC_000012.11:g.113901309C>G , CM000674.1:g.113901309C>G | GRCh37 |
| NC_000012.10:g.112385692C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261731.4:c.895G>C MANE Select | ENSP00000261731.2:p.Gly299Arg | |
| ENST00000261731.3:c.895G>C | ENSP00000261731.2:p.Gly299Arg | |
| NM_022363.2:c.895G>C | NP_071758.1:p.Gly299Arg | |
| NM_022363.3:c.895G>C MANE Select | NP_071758.1:p.Gly299Arg |