Linked Data
ClinVar Variation Id:
1572831
dbSNP Id:
rs1554454548
gnomAD v4:
8-10622704-C-T
COSMIC:
COSM461500
MyVariant Identifiers:
chr8:g.10480214C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10622704C>T , CM000670.2:g.10622704C>T | GRCh38 |
| NC_000008.10:g.10480214C>T , CM000670.1:g.10480214C>T | GRCh37 |
| NC_000008.9:g.10517624C>T | NCBI36 |
| NG_028035.1:g.37404G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382483.4:c.498G>A MANE Select | ENSP00000371923.3:p.Gln166= | |
| ENST00000329335.3:n.748G>A | ||
| ENST00000382483.3:c.498G>A | ENSP00000371923.3:p.Gln166= | |
| NM_178857.5:c.498G>A | NP_849188.4:p.Gln166= | |
| NM_178857.6:c.498G>A MANE Select | NP_849188.4:p.Gln166= |