Linked Data
ClinVar Variation Id:
1548797
ClinVar RCV Id:
RCV002187117
dbSNP Id:
rs377067278
gnomAD v4:
8-10622773-G-C
MyVariant Identifiers:
chr8:g.10480283G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10622773G>C , CM000670.2:g.10622773G>C | GRCh38 |
| NC_000008.10:g.10480283G>C , CM000670.1:g.10480283G>C | GRCh37 |
| NC_000008.9:g.10517693G>C | NCBI36 |
| NG_028035.1:g.37335C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382483.4:c.429C>G MANE Select | ENSP00000371923.3:p.Ser143= | |
| ENST00000329335.3:n.679C>G | ||
| ENST00000382483.3:c.429C>G | ENSP00000371923.3:p.Ser143= | |
| NM_178857.5:c.429C>G | NP_849188.4:p.Ser143= | |
| NM_178857.6:c.429C>G MANE Select | NP_849188.4:p.Ser143= |