Linked Data
ClinVar Variation Id:
1665908
ClinVar RCV Id:
RCV002203317
dbSNP Id:
rs730880852
MyVariant Identifiers:
chr14:g.23900678G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23431469G>T , CM000676.2:g.23431469G>T | GRCh38 |
| NC_000014.8:g.23900678G>T , CM000676.1:g.23900678G>T | GRCh37 |
| NC_000014.7:g.22970518G>T | NCBI36 |
| NG_007884.1:g.9193C>A , LRG_384:g.9193C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355349.4:c.745C>A MANE Select | ENSP00000347507.3:p.Arg249= | |
| ENST00000355349.3:c.745C>A | ENSP00000347507.3:p.Arg249= | |
| NM_000257.3:c.745C>A | NP_000248.2:p.Arg249= | |
| XR_245686.3:n.851C>A | ||
| XM_017021340.1:c.745C>A | XP_016876829.1:p.Arg249= | |
| NM_000257.4:c.745C>A MANE Select | NP_000248.2:p.Arg249= |