Linked Data
ClinVar Variation Id:
1352767
ClinVar RCV Id:
RCV002049541
dbSNP Id:
rs369240307
gnomAD v4:
8-10622724-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10622724T>G , CM000670.2:g.10622724T>G | GRCh38 |
| NC_000008.10:g.10480234T>G , CM000670.1:g.10480234T>G | GRCh37 |
| NC_000008.9:g.10517644T>G | NCBI36 |
| NG_028035.1:g.37384A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382483.4:c.478A>C MANE Select | ENSP00000371923.3:p.Met160Leu | |
| ENST00000329335.3:n.728A>C | ||
| ENST00000382483.3:c.478A>C | ENSP00000371923.3:p.Met160Leu | |
| NM_178857.5:c.478A>C | NP_849188.4:p.Met160Leu | |
| NM_178857.6:c.478A>C MANE Select | NP_849188.4:p.Met160Leu |