Linked Data
ClinVar Variation Id:
2783487
ClinVar RCV Id:
RCV003618158
dbSNP Id:
rs759284893
gnomAD v4:
10-87727288-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87727288C>G , CM000672.2:g.87727288C>G | GRCh38 |
| NC_000010.10:g.89487045C>G , CM000672.1:g.89487045C>G | GRCh37 |
| NC_000010.9:g.89477025C>G | NCBI36 |
| NG_012150.1:g.72570C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456849.2:c.885C>G MANE Select | ENSP00000406157.1:p.Gly295= | |
| ENST00000361175.8:c.870C>G | ENSP00000354436.4:p.Gly290= | |
| ENST00000456849.1:c.885C>G | ENSP00000406157.1:p.Gly295= | |
| NM_001015880.1:c.885C>G | NP_001015880.1:p.Gly295= | |
| NM_004670.3:c.870C>G | NP_004661.2:p.Gly290= | |
| NM_001015880.2:c.885C>G MANE Select | NP_001015880.1:p.Gly295= | |
| NM_004670.4:c.870C>G | NP_004661.2:p.Gly290= |