Linked Data
ClinVar Variation Id:
2723010
ClinVar RCV Id:
RCV003508499
dbSNP Id:
rs756011788
ExAC:
10:89504929 A / G
gnomAD v2:
10-89504929-A-G
gnomAD v4:
10-87745172-A-G
COSMIC:
COSM5595069
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87745172A>G , CM000672.2:g.87745172A>G | GRCh38 |
| NC_000010.10:g.89504929A>G , CM000672.1:g.89504929A>G | GRCh37 |
| NC_000010.9:g.89494909A>G | NCBI36 |
| NG_012150.1:g.90454A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456849.2:c.1662A>G MANE Select | ENSP00000406157.1:p.Pro554= | |
| ENST00000361175.8:c.1647A>G | ENSP00000354436.4:p.Pro549= | |
| ENST00000456849.1:c.1662A>G | ENSP00000406157.1:p.Pro554= | |
| NM_001015880.1:c.1662A>G | NP_001015880.1:p.Pro554= | |
| NM_004670.3:c.1647A>G | NP_004661.2:p.Pro549= | |
| NM_001015880.2:c.1662A>G MANE Select | NP_001015880.1:p.Pro554= | |
| NM_004670.4:c.1647A>G | NP_004661.2:p.Pro549= |