Linked Data
ClinVar Variation Id:
242891
ClinVar RCV Id:
RCV000492046
dbSNP Id:
rs1114167297
gnomAD v4:
10-32019912-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.32019912T>C , CM000672.2:g.32019912T>C | GRCh38 |
| NC_000010.10:g.32308840T>C , CM000672.1:g.32308840T>C | GRCh37 |
| NC_000010.9:g.32348846T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302418.5:c.2252A>G MANE Select | ENSP00000307078.4:p.His751Arg | |
| ENST00000302418.4:c.2252A>G | ENSP00000307078.4:p.His751Arg | |
| ENST00000493889.1:n.121A>G | ||
| NM_004521.2:c.2252A>G | NP_004512.1:p.His751Arg | |
| XM_017016224.2:c.1970A>G | XP_016871713.1:p.His657Arg | |
| NM_004521.3:c.2252A>G MANE Select | NP_004512.1:p.His751Arg |