Linked Data
ClinVar Variation Id:
39747
ClinVar RCV Id:
RCV000032963
dbSNP Id:
rs397514575
PubMed:
PMID:23029027
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96290415G>C , CM000664.2:g.96290415G>C | GRCh38 |
| NC_000002.11:g.96956153G>C , CM000664.1:g.96956153G>C | GRCh37 |
| NC_000002.10:g.96319880G>C | NCBI36 |
| NG_016973.1:g.20145C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323853.10:c.2653C>G MANE Select | ENSP00000317123.5:p.Gln885Glu | |
| ENST00000652267.1:c.2653C>G | ENSP00000498933.1:p.Gln885Glu | |
| ENST00000323853.9:c.2653C>G | ENSP00000317123.5:p.Gln885Glu | |
| NM_014014.4:c.2653C>G | NP_054733.2:p.Gln885Glu | |
| NM_014014.5:c.2653C>G MANE Select | NP_054733.2:p.Gln885Glu |